Reproduction and Development Notes

Reproduction

Definition

  • Process by which human beings produce offspring.
  • Involves antecedents, defining characteristics, positive and negative consequences, risk factors, interrelated concepts, and exemplars.

Ovarian Cycle

  • Involves the growth of follicles, ovulation, corpus luteum formation, and corpus albicans.
  • Influenced by anterior pituitary hormones (follicle-stimulating hormone and luteinizing hormone) and ovarian hormones (estradiol and progesterone).
  • Correlated with the uterine cycle phases (menses, follicular phase, luteal phase).

Spermatic Cord

  • Contains blood vessels, nerves, epididymis, testis, and is enclosed by a fibrous capsule.

Background

  • Anterior Pituitary:
    • Prolactin: Stimulates breastmilk secretion.
    • Luteinizing Hormone: Causes ovulation and stimulates the ovary to produce estrogen and progesterone.
  • Adrenal Cortex:
    • Androgen & Estrogen: Promotes secondary sex characteristics.

Pregnancy

  • Spans 9 months or 10 lunar months, equivalent to 40 weeks or 280 days.
  • Divided into three trimesters (1-13 weeks, 14-26 weeks, 27-40 weeks).
  • Considered term if it advances to the completion of 37 weeks.
  • Conception is a normal physiologic process that occurs without incidence most of the time.
  • Puberty is the onset of sexual maturation.

Healthy Pregnancy

  • Fertilization results in a zygote, with half of the genetic material from the ovum and half from the sperm, establishing the sex of the offspring.
  • The blastocyst implants into the endometrium.
  • Embryonic Period:
    • Occurs from 3-8 weeks after fertilization.
    • Differentiation of body systems occurs.
    • Avoid exposure to potential toxins during pregnancy.
  • Fetal Period:
    • From 9 weeks to birth.
    • Significant fetal growth.
  • Blood volume increases by 30-45%, systemic vascular resistance decreases, leading to a risk for reduced blood pressure. Red blood cell (RBC) count increases by 20-30%.
  • Uterine enlargement pushes up on the diaphragm, causing periodic shortness of breath; respiratory rate may increase slightly.
  • Rise in hCG leads to nausea and vomiting early in pregnancy. Uterine enlargement decreases peristalsis.
  • Abdominal walls stretch and lose tone, potentially causing gait and balance difficulties.

Normal Newborn

  • Low O<em>2O<em>2 and high CO</em>2CO</em>2 initiate impulses that excite the respiratory center in the medulla.
  • Inspired O2O_2 dilates vessels, decreases pulmonary vascular resistance and increases systemic vascular resistance; closes fetal cardiac shunts and initiates normal circulation.
  • APGAR Scoring: Assesses heart rate, respiratory effort, muscle tone, reflex irritability, and color.
  • Thermoregulation: Due to loss of body heat, newborns must be dried and warmed quickly.
  • Measurement of Length, Weight, and Head Circumference: Monitored using growth charts.
  • Vitamin K administration after birth decreases the risk for bleeding.

High-Risk Pregnancy

  • Biophysical: Originates within the mother or fetus; affects development or functioning of either (e.g., genetic disorders, obstetric-related illness).
  • Psychosocial: Maternal behaviors and adverse lifestyles that negatively affect the mother or fetus (e.g., inadequate social support, drug/alcohol abuse).
  • Sociodemographic: Arises from the mother and family that place the mother and fetus at risk (e.g., low income, lack of prenatal care, age).
  • Environmental: Hazards in the workplace and the woman’s general surroundings (e.g., exposure to toxins, infections).

Preterm Labor & Delivery

  • Preterm Labor: Regular contractions accompanied by cervical dilation and effacement.
  • Preterm Birth: Birth that occurs between 20 0/7 and 36 6/7 weeks.
    • Very preterm: < 32 weeks.
    • Moderately preterm: 32-34 weeks.
    • Late preterm: 34-36 6/7 weeks.
  • Infection is the only definitive associated factor of PTL/PTB (bacterial, UTIs).
  • Risk Factors: Periodontal disease, bleeding at implantation site, stress, uterine overdistention, decrease in progesterone, risk factors for high-risk pregnancy.
  • Clinical monitoring includes assessing cervical length and performing a fetal fibronectin test.
  • Fetal Fibronectin Test: Detects a glycoprotein found in plasma and produced during fetal life.

Ectopic Pregnancy

  • Gestation that occurs in a location other than the endometrial lining (e.g., fallopian tubes, cervix, ovary).
  • Requires fertilization of the ovum and abnormal implantation, resulting in decreased hCG (human chorionic gonadotropin) levels.
  • Risk factors include damage to fallopian tubes, smoking, history of infertility treatment with hormonal medication, advanced maternal age, and STIs.
  • After growth between 6-16 weeks, rupture occurs, posing a major risk of hemorrhage and death.
  • Prior to rupture, symptoms include abdominal pain, vaginal bleeding, vomiting, and syncope.

Spontaneous Abortion

  • Pregnancy that ends as a result of natural causes before 20 weeks gestation (miscarriage).
  • Manifestations include uterine bleeding, uterine contractions, or abdominal pain.
  • If it occurs prior to the 6th week, a woman may report a heavy period.
  • Early loss (<12 weeks gestation): 80%, with 25% due to chromosomal abnormalities, endocrine imbalance, or immunologic factors.
  • Late loss (12-20 weeks): 20%.
  • Risk factors include a pregnancy history of spontaneous abortion, obesity, alcohol use, caffeine, and increased maternal age.

Infertility

  • Inability to conceive after one year of actively trying or six months for women 35 and older.
  • Female:
    • Failure to ovulate is the most common infertility problem (abnormal menstruation).
    • History of PCOS.
    • Abnormalities or damage to fallopian tubes, defects of uterus, cervical stenosis, history of PID (pelvic inflammatory disease), endometriosis.
  • Male:
    • Low testosterone levels, hypopituitarism, endocrine disorders, STIs.
    • Structural and anatomical complications, such as undescended testes, obstructive lesions of vas deferens and epididymis.
    • Impotence caused by alcohol or medications.
    • Age – sperm shape, quality, quantity, and motility decline.

Reproduction Cycles & Inflammation

  • Females:
    • Oligomenorrhea: Infrequent menstrual periods.
    • Polymenorrhea: Frequent menstrual periods (cycle every 2-3 weeks).
    • Amenorrhea: Absence of a menstrual cycle (longer than 6-7 weeks).
  • Males:
    • Epididymitis: Inflammation of the epididymis.
    • Orchitis: Inflammation or infection of the testes.

PKU Screening

  • All states mandate screening for phenylketonuria (PKU) – blood sample taken after ingestion of protein.
  • Autosomal recessive genetic abnormality – absence of hepatic enzyme hydroxylase that metabolizes amino acid phenylalanine.
  • Controls conversion of phenylalanine to tyrosine.
  • Without screening, symptoms would not be observed until after ingestion of phenylalanine.
  • Symptoms include defective myelination and degeneration of gray and white matter leading to cognitive impairment, growth failure, erratic behaviors, and seizures.
  • Treatment involves restriction of dietary protein.

SIDS

  • Sudden infant death syndrome – sudden death of infant younger than 1 year that remains unexplained after autopsy.
  • Highest risk associated with prone position, use of soft bedding, co-sleeping with adult (especially on sofa or noninfant bed), and smoking adults.
  • Other risk factors include infants with a recent history of illness; lower incidence in immunized infants.
  • Theories:
    • Possible relationship to brainstem abnormalities in regulation of cardiorespiratory control.
    • “Triple-risk factor”: 1) underlying brain abnormality; 2) critical incident in fetal development period; and 3) environmental stressor.

Female Reproductive Disorders

Uterine Dysfunction - Endometrial Polyps
  • Etiology and Pathogenesis:
    • Hyperplastic growth of the endometrial glands and stroma.
    • Exact etiology unknown but thought to be the result of an imbalance of estrogen and progesterone.
  • Manifestations:
    • Abnormally heavy uterine bleeding.
    • Abdominal pain.
    • Bleeding after menopause.
    • Infertility or history of miscarriage.
  • Diagnosis:
    • Ultrasound or hysteroscopy with biopsy.
  • Treatment:
    • None for the majority of clients.
    • Hormonal medications or surgery to remove polyps.
Uterine Dysfunction - Endometriosis
  • Etiology and Pathogenesis:
    • Presence of functional endometrial tissue or implants outside the uterus.
  • Manifestations:
    • Infertility, pelvic pain, dyschezia (pain with defecation), dyspareunia, constipation, and abnormal vaginal bleeding.
  • Diagnosis:
    • Based upon the presence of the previously described symptoms.
    • Pelvic laparoscopy is required for a definitive diagnosis.
  • Treatment:
    • Based upon the stage of the disease and is aimed toward the prevention of disease progression, alleviation of pain, and restoration of fertility.
Uterine Dysfunction - Adenomyosis
  • The invasion of the myometrium by glandular endometrial tissues.
  • Risk factors – age, obesity, history of uterine surgery.
  • Clinical manifestations – bleeding between cycles, pain, abdominal distention.
  • Evaluation – H&P, CT, lab testing.
  • Treatment - hormone supplementation, surgery.
Uterine Dysfunction - Leiomyomas
  • Also known as fibroids
  • Risk factors – none specific outside of female sex
  • Clinical manifestations – uterine bleeding, pelvic pressure, pain
  • Evaluation – H&P, U/S
  • Treatment – monitoring to surgery
Polycystic Ovarian Syndrome (PCOS)
  • Hormonal dysfunction – estrogen and androgen
  • Leads to small cyst growth in ovaries
  • Elevated hormones or androgens lead to cessation of menses and irregular menstruation
  • Hyperandrogenism (hirsutism and acne)
  • Additional symptoms: infertility, obesity, metabolic syndrome, diabetes, obstructive sleep apnea (OSA)
  • Higher risk for obstetric complications: gestational diabetes, risk for miscarriage
Sexual Dysfunction (Female)
  • Decreased libido
    • Psychological etiology: Depression, alcohol or other substance abuse; prior trauma, fear
    • Physical etiology: Hormonal alterations
  • Vaginismus – female specific; involuntary spasm of pubococcygeal muscle in response to attempted penetration
  • Dyspareunia – painful intercourse
  • Orgasmic Dysfunction – inability to reach or achieve orgasm
    • Primary - Never achieved orgasm; usually genetic or trauma-related
    • Secondary - Usually related to hypoactive sexual desire disorder

Male Reproductive Disorders

Sexual Dysfunction (Male)
  • Psychological or physical etiology
  • Physical – vascular (atherosclerosis and hyperlipidemia), neurologic, urologic, lifestyle-related (alcohol use, obesity), aging process, chronic diseases
  • Psychological – anxiety, depression, fear, low self-esteem, stress
  • Medications – anti-hypertensives
  • Primary – have had trouble attaining erection throughout life
  • Secondary – once able to attain/maintain erection, now can not
  • Impairment of any or all of the processes of erection, emission and ejaculation
Penile Disorders
  • Hypospadias and epispadias: Abnormalities in the urethral opening
  • Phimosis and paraphimosis: Abnormalities in the foreskin of the penis
  • Priapism: Prolonged erection
  • Peyronie Disease: Bending or curvature of the penis

Diagnostics/Treatment (Reproduction)

  • Diagnostics
    • hCG
    • Estrogen and Progesterone Levels
    • Testosterone Levels
    • Genetic Testing
    • Ultrasound
  • Treatment
    • Medications
    • Surgical Procedures

Development

Concept Review

  • Definition - Sequence of changes over the lifespan to include physical, motor, cognitive, social/emotional, and adaptive.
  • Involves growth, differentiation, and maturation.
  • Exemplars
    • Down Syndrome
    • Autism
    • Cerebral palsy
    • Child psychiatry disorders (ADD, ADHD)

Cerebral Palsy

  • Disorder of movement, muscle tone or posture; caused by injury or abnormal development in the immature brain, before, during or after birth up to 1 year of age
  • Risk Factors: cerebral hypoxia, hemorrhage, infection, genetic abnormalities or low birth weight
  • Issues with muscle movement, gait, balance
  • Associated neurological disorders
Types of Cerebral Palsy
  • Pyramidal/spastic cerebral palsy
    • Increased muscle tone, hyperactive reflexes, rigidity of extremities, contractures (70-80% cases)
  • Extrapyramidal/non-spastic cerebral palsy
    • Damage to cells in the basal ganglia, thalamus or cerebellum - includes two subtypes
      • Dystonic – difficulty in fine motor coordination and purposeful movements
      • Ataxic – damage to the cerebellum with alterations in coordination and movement

ADD/ADHD

  • Attention Deficit Disorder – trouble paying attention, difficulty finishing tasks, distracted
  • Attention Deficit Hyperactivity Disorder – same as above in addition to overly active
  • Causes and risk factors unknown
    • Possible genetic links
    • Possible environmental exposures, alcohol and tobacco use of mother
    • Premature delivery, low birth weight
  • Children do not grow out of these behaviors
  • Cause difficulty at school, home and/or with friends
Three Types of ADD/ADHD
  • Predominantly inattentive: difficulty finishing tasks, easily distracted and forgets details of routines (ADD)
  • Predominantly hyperactive-impulse: fidgets or talks a lot, may jump/run constantly, restless, impulsive, risk-taking behaviors (ADHD)
  • Combined: both symptom types are equally present
ADD/ADHD Diagnosis & Treatment
  • Diagnosis
    • Difficult due to similar symptoms with other learning disorders and anxiety
    • Assessment tools can assist
    • Diagnosis requires impairment of functioning (academic, social, etc.) and often extends into adulthood
    • Presentation may change in adulthood
  • Treatment
    • Behavioral therapy – recommended first line treatment
    • Medications

Down Syndrome

  • Most common chromosomal condition – trisomy 21
  • Type of aneuploidy – cell containing abnormal number of chromosomes
  • Intellectual disability, physical characteristics
    • Low nasal bridge
    • Protruding tongue
    • Poor muscle tone
    • Hearing problems
  • Risk factors - Could be associated with rising maternal age
  • Impairment of language, cognition, learning, and memory
  • Neuroimaging studies inconclusive as to reason for deficits
    • MRI – may indicate total intracranial volume smaller
    • Difference in cerebellum, brainstem and frontal lobes
  • Treatments – speech therapy, physical therapy, communication techniques
  • Adults – higher risk of sensory loss, hypothyroidism, and Alzheimer’s

Autism Spectrum Disorder (ASD)

  • Precise etiology unknown:
    • Risk factors may include paternal age, maternal health, and genetics
    • Inflammatory process in brain appears altered (may be link to mast cells)
    • Genetic component
    • No known link between vaccines and ASD
  • Characterized by:
    • Deficits in communication and social interaction
    • Restricted and repetitive patterns of behavior
    • Varied presentation of symptoms
    • Cognitive impairments – impacts social function
    • Weak executive function
  • Difficult to diagnose - based on history and exam
  • Behavioral treatment programs

Cellular Regulation - Genetics

Definition

  • Intracellular functions that support homeostasis including growth, replication & differentiation.

Key Concepts

  • Gene – segment of DNA; codes for production of certain proteins
  • Genetics – study of individual genes and impact on inheritance and on single-gene and chromosomal disorders
  • Genomics – study of structure, function, and analysis of the human genome

Genetics Basics

  • Gene - composed of a double DNA helix; compacted to make up chromosomes; genes occupy a specific location on a chromosome and determines characteristics of organisms (instruction manuals)
  • Instruction manuals (genes) include letters to write instruction manual (DNA); bookshelf (chromosome)
  • 46 chromosomes in cells; grouped in 23 pairs (one from each parent)
  • 23rd pair – sex chromosome (XX – female; XY – male)

Cell Division

  • Mitosis – all cells capable of this (except egg and sperm cells)
    • Duplication – two identical “daughter” cells produced from single “parent” cell
    • Develop normal tissue or replace lost of damaged normal tissues
  • Meiosis – only cells that will become eggs in females and sperm in males
    • Generates “daughter” cells distinct from one another and from “parent” cell
    • Utilized for sexual reproduction

Aneuploidy

  • Wrong number of chromosomes
  • Nondisjunction – don’t separate correctly; wrong number of chromosomes into cell
    • Extra – trisomy
    • Missing – monosomy
    • Trisomy 21, 13, 18
  • Sex chromosome aneuploidy
    • Males with two X chromosomes and Y chromosome (extra - 47)
    • Females with one X chromosome (missing - 45)
Turner Syndrome
  • Sex chromosome aneuploidy
  • Female with one X chromosome (X)
    • Short stature
    • Infertility
    • Cardiac abnormalities
Klinefelter Syndrome
  • Sex chromosome aneuploidy
  • Males with two X chromosomes and Y chromosome (extra) (XXY)
    • Have a male appearance but usually infertile
    • 50% develop female-like breasts (gynecomastia)
    • Sparse body hair, small testicles

Genetic Mutations

  • Uncorrected can pass on through generations
  • Deletions
  • Duplications
  • Inversions
  • Insertions
  • Translocations

Trait Expression

  • Genotype: Composition of genes (genetic code)
  • Phenotype: Outward expression of our genotype (observable characteristics)
  • Locus: Chromosome that houses genes
  • Alleles are various forms of a gene at a given locus
  • Heterozygous: Traits/alleles are different
  • Homozygous: Traits/alleles are the same
  • Dominant: Allele effects are expressed
  • Recessive: Allele effects are suppressed UNLESS traits are homozygous
  • Penetrance: With an inherited genetic condition, variable forms of expression can occur (complete vs incomplete)
  • Polygenic: Traits that occur as result of several genes acting together
  • Multifactorial: Environmental influence of gene expression

Single-Gene Mutations

  • Three inheritance patterns
    • Autosomal Dominant
    • Autosomal Recessive
    • X-Linked Recessive
  • Reduced penetrance – not everyone who inherits gene mutation will have the same clinical symptoms
  • May not be family history if a mutation is new
Autosomal Recessive
  • Non-sex chromosome
  • Both parents are carriers of gene mutation
  • 25% chance of passing along full mutation – affected gene from each parent
  • Examples include: Cystic Fibrosis and Sickle Cell Anemia
Tay-Sach’s Disease
  • 80% of individuals diagnosed are of Jewish ancestry
  • Onset of disease is 4-6 months
  • Autosomal Recessive
  • Symptoms
    • Seizures
    • Developmental repression
    • Blindness
Autosomal Dominant
  • Only one copy of a mutated gene required to cause disease
  • 50% chance of passing along mutation
  • Examples include: Huntington’s disease and Hereditary nonpolyposis colon cancer syndrome
Huntington’s Disease
  • Autosomal Dominant
  • Rare, hereditary, degenerative hyperkinetic movement disorder diffusely involving the basal ganglia and cerebral cortex
  • Onset between 25 and 45
  • Involuntary fragmentary movements - chorea
  • Cognitive deficits include loss of working memory and reduced capacity to plan, organize and sequence
X-Linked Recessive
  • Mutations on the X chromosome – females pass along to sons
  • Females have two copies of X chromosome – one of two copies is turned off; do not express disease or only mild symptoms
  • Males have one copy – will manifest disease
  • Father cannot pass along – children inherit X chromosome from mother and Y from father
Muscular Dystrophy
  • X-linked Recessive
  • Common in boys (1 in 3500)
  • Caused by mutation in the dystrophin gene – poorly anchored fibers tear themselves apart under repeated stress of contraction
  • Muscle weakness, difficulty walking and large calves
  • Weakness worsens over years with a loss of ability to ambulate by 8-13 years old
Fragile X Syndrome
  • X-linked Inheritance
  • Associated with intellectual disability
  • Affects 1 in 4000 males and 1 in 8000 females
  • Females who inherit the mutation do not necessarily express the disease condition but can pass it on
  • Males who inherit the disease on the x chromosome expresses the condition because only has one X chromosome

Karyotyping

  • Way of visualizing someone's complete set of chromosomes

Cellular Regulation - Oncology

Definition

  • Intracellular functions that support homeostasis including growth, replication & differentiation.

Cell Growth

  • Two types of normal division
    • Mitosis – all cells capable of this (except egg and sperm)
      • Duplication – two identical “daughter” cells produced from single “parent” cell
      • Develop normal tissue or replace lost of damaged normal tissues
    • Meiosis – only cells that will become eggs in females and sperm in males
      • Generates “daughter” cells distinct from one another and from “parent” cell
      • Utilized for sexual reproduction
  • Proliferation – production of new cells
  • Differentiation – specification of cellular functions
  • Apoptosis – programmed and normal cell death
Cell Growth Regulation
  • Normally, new cells are created at the same rate as old cells die
  • Controlled by molecular “stop” and “go” signals
    • Injured cells send “go” signals – activates intracellular proliferation pathways
    • “Stop” signals sent after new tissue formed
  • Errors in this process can result in uncontrolled growth (neoplasm)
  • It takes multiple errors compounded over time for cells to become malignant
Cell Cycle
  • Cells cannot reverse process and go backward
    • Resting State – G0
    • Gap – G1 (interphase)
    • Synthesis – S
    • Gap – G2 (interphase)
    • Mitosis – M (formation of two identical cells)
  • Interphases – chromosomes are copied, cell typically doubles in size
  • Normal cell cycle includes 3 checkpoints
  • It is during this cycle that DNA damage can lead to neoplasms
Genetic Mutations
  • Tumor Suppressor Genes
    • Normally inhibit cell replication (Tp53, NF1)
  • Proto-Oncogenes
    • Regulates proliferation of cells – tissue healing
  • Mutator Genes
    • DNA repair genes – check DNA or mismatched base pairs
Carcinogenesis
  • Process where normal cells develop into cancer cells
    • Initiation
    • Promotion
    • Progression
Carcinogens – Risk Factors
  • Age
  • Smoking/tobacco
  • Infectious agents
  • Genetics
  • Exposure to environmental carcinogens such as sunlight; pollutants in the air, soil, water, or food; or medical treatments such as medications or radiation
  • Poor nutrition
  • Sedentary lifestyle
Checkpoint
  • Apoptosis:
    • Programmed cell death
Development of Tumors
  • When multiple errors occur, mutations become fixed leading to neoplasia and formation of tumors
    • Benign
      • Groups of abnormal cells with excessive growth
      • Retain most of morphologic and functional characteristics – well differentiated
      • Capable of replication and mitosis, not metastasis
      • Obstruct body structures – pain, physiological dysfunction, death (brain tumors)
      • Typically termed “adenomas”
    • Malignant
      • Abnormal growth and abnormal function, can metastasize - undifferentiated
      • Due to unrepaired errors in multiple cancer-causing genes
      • Cancer cells recruit normal cells to contribute and support proliferation and invasion
      • Tumor angiogenesis – can take nutrients from healthy cells or survive through anaerobic metabolism
Cell growth Differentiation
  • Most cells are differentiated into a specialized cell type
  • Cell acquires functions different from parent cell
  • Cell-signaling is a complex process; normally, when signaling mistakes occur, the error is repaired or destroyed
  • If this system is not working, malignancy can occur
Histologic Grading & Staging
  • Histologic Grading
    • Degree of differentiation – how different it appears from tissue of origin e.g.: Grade I to Grade IV- anaplasia (worst prognosis)
    • Grade IV = poor to undifferentiated differentiation
  • Staging – TNM System (solid tumors); I- IV with IV representing advanced disease
    • T – tumor size and invasiveness
    • N – spread to regional Nodes
    • M – Metastasis to distant sites
Manifestations of Cellular Regulation Issues
  • Change in bowel or bladder habits
  • A sore that does not heal
  • Unusual bleeding or discharge
  • Thickening or lump in breast or any part of body
  • Indigestion or difficulty swallowing
  • Obvious change in mole
  • Nagging cough or hoarseness
  • Local effects – increase in size of tumor and pressure it exerts on surrounding organs/tissues
  • Systemic effects – tumor secretion of cytokines (IL-6, TNF-a) which cause fever, cachexia, and fatigue.
  • Paraneoplastic syndromes – malignancy produces hormones, peptides, or reacts with normal tissue to cause symptoms distant from tumor site (i.e., hypercalcemia, SIADH)
Adenocarcinoma
  • Type of cancer that starts in the epithelial cells of glands that line the inside of the organs
  • Occurs when the glands that line the organs grow out of control
  • Common type of colon cancer, breast cancer, prostate cancer, and lung cancer
Breast Cancer
  • Tp53 Gene
  • BRCA1 and BRCA2 gene mutation
  • Risk factors – age, gender, family history, obesity, smoking, overuse of alcohol
  • Breast cancer cells with damaged DNA do not die off; continue replicating and become a malignancy
  • Mass – hard, fixed, non-mobile, dimpling of skin, inverted nipple, red, scaly rash
  • ER+ and PR+ - assist in guiding treatment
  • Triple screen – exam, imaging, biopsy
Lung Cancer
  • Leading cause of cancer deaths – more than prostate, breast, and colon cancer combined
  • Uncontrolled cell growth of lung tissues – non-small cell lung cancer most common type
  • Long-term exposure to cigarette smoke (85-90% of cases)
  • Linked to DNA mutations that damage p53 suppressor gene
  • Hemoptysis, shortness of breath, weight loss
  • Paraneoplastic syndromes – secretion of PTH leading to hypercalcemia
Colon Cancer
  • Can occur anywhere along GI tract
  • Adenomas (polyps) – benign tumors formed from glandular structures in intestinal epithelium
  • Precursor to cancer
  • Result of genetic abnormalities and environmental factors (smoking, diet, obesity, lack of exercise)
  • Mutated tumor suppressor genes and oncogenes
  • Change in bowel habits, fatigue, weight loss, abdominal pain
Prostate Cancer
  • Grows slowly – rarely causes serious harm
  • Screening is important to prevent late stages as it can metastasize to bones and lymph nodes
  • Tends to develop on periphery of gland
  • Symptoms – urinary frequency, weak flow, blood in the urine, pain or burning on urination
Sarcoma
  • Type of cancer that originates in the connective tissue (muscle or bone)
  • Osteosarcoma – type that affects the bone
  • Rare but grows fast and metastasizes quickly
  • Occurs mainly in the femur, tibia, and humerus
  • Risk factors
    • May be connected to periods of high bone growth or bone overstimulation
    • Adolescents and young adults
    • Radiation and bone marrow transplant increase risk
  • Leads to osteomyelitis – bone breakdown, fractures
  • Tumor destroys bone tissue, interferes with bone blood supply
  • Deep bone pain, worse at night; muscle weakness and atrophy
Blastoma
  • Cancer caused by malignancies in precursor cells (blasts)
  • Nephroblastoma (Wilm’s tumor) – most common kidney cancer in children
  • Associated with many genetic abnormalities
  • Abdominal mass, swelling
  • Survival rate 90%
Leukemias and Lymphomas
  • Hematologic cancers – genetically abnormal cells resulting in immature or ineffective hematopoietic cells
  • All blood cells are derived from multipotent hematopoietic stem cells – can differentiate into any of 10 blood cell lines
    • Erythrocytes, platelets, neutrophils, eosinophils, basophils, monocytes, T lymphocytes, B lymphocytes, natural killer cells, and dendritic cells
  • Lymphomas – originate in lymphatic tissues
  • Leukemias – originate in bone marrow or blood-forming cells
Leukemia Types
  • Acute Lymphocytic
  • Chronic Lymphocytic
  • Acute Myelogenous
  • Chronic Myelogenous
Hodgkin’s Lymphoma
  • Leads to large, malignant B lymphocytes – Reed-Sternberg cells – most cases impact B lymphocytes
  • Risk factors – viral exposures, immune suppression
  • Manifestations – enlarged lymph node (neck – most common), splenomegaly, hepatomegaly, fatigue, weight loss, night sweats
Non-Hodgkin’s Lymphoma
  • Broad category of all other lymphomas that do not contain Reed-Sternberg cells
  • Can impact B cells or T cells/NK cells
  • Risk factors – Host (decreased immune response, viral infections) and environment (exposure to herbicides, solvents, chemicals)
  • Genetic mutations occur – translocations to proto-oncogenes and inactivation of tumor suppressor genes
  • Tend to form solid tumors – congregate in lymphatic tissue
  • Painless, enlarged lymph nodes; GI tract symptoms; can also impact other organs such as the oral cavity, respiratory system, and bones.
Skin Cancers - Carcinoma and Melanoma
  • UV light exposure, light-colored skin, older age, male gender
  • Basal Cell Carcinoma – 80% of skin cancers; rarely metastasizes but can cause severe disfigurement
    • Damaged, unrepaired DNA in the nucleus of squamous cells in the epidermis, TP53 mutation – UV damage triggers
  • Squamous Cell Carcinoma – incidence increased 200%
  • Malignant Melanoma
    • Most deadly – originates in melanocytes due to unrepaired DNA damage, lowest layer of epidermis
    • Changes in tumor suppressor genes
Immune Thrombocytopenic Purpura (ITP)
  • Fairly common autoimmune disease
  • Destruction of platelets by antiplatelet antibodies – mainly occurs in spleen
  • IgG immunoglobulins are directed against host platelet antigens
  • Thrombocytopenia
  • Chronic disease with relapses
  • Purpura, epistaxis, retinal hemorrhage can occur, spontaneous intracranial bleeding
  • IV immunoglobulin infusions administered for treatment
  • Splenectomy

Diagnostics and Treatment (Oncology)

  • Diagnostics
    • CBC
    • BMP – basic metabolic panel
    • Pathology/Biopsy
    • Tumor markers
  • Treatment
    • Chemotherapy
    • Radiation
    • Surgery
    • Biologic therapies
    • Stem cell transplantation

Fluid and Electrolyte Balance

Definition

  • The body fluids and electrolytes (intracellular, extracellular, intravascular, and transcellular) that promote homeostasis when in balance.

Fluid and Electrolyte Balance Consequences

  • Cardiac dysrhythmias
  • Shock
  • Constipation
  • Tachycardia
  • Hypertension, hypotension
  • Edema
  • Nausea and vomiting
  • Oliguria
  • Apathy
  • Cognitive