Module 1: Pathophysiology, Cellular Adaptation, Cancer, Genetics, and Epigenetics

Vocabulary flashcards covering general pathophysiology terms, cellular adaptation and damage, neoplasia and cancer, genetic inheritance patterns and disorders, and epigenetics mechanisms from Module 1.

Pathophysiology

The study of changes in normal anatomy and physiology associated with disease or injury.

Disease

The state in which a bodily function is no longer occurring normally.

Homeostasis

A dynamic process of maintaining equilibrium, balance, consistency, or stability through compensation mechanisms.

Compensatory Mechanism

Physiological response to homeostatic imbalance in an attempt to maintain normalcy.

Etiology

The cause of a disease.

Idiopathic

Diseases with unknown causes.

Iatrogenic

Diseases caused by an unintended effect of medical treatment.

Nosocomial

Diseases acquired as a consequence of being in the hospital.

Diagnosis

The naming or identification of a disease or disorder.

Predisposing factor

Another name for a risk factor; a tendency that puts an individual at risk for developing certain diseases.

Pathogenesis

Development and evolution of a disease or disorder.

Congenital

Conditions involving defects or damage to a developing fetus; present at birth.

Acute

A condition that is short term in nature, occurring and resolving quickly.

Chronic

State that occurs when an acute disease does not resolve in a short period of time.

Manifestation

The clinical effects or evidence of disease, which may include both signs and symptoms.

Signs

Objective clinical manifestations that can be seen or measured, such as pulse rate, blood pressure, or body temperature.

Symptoms

Subjective clinical manifestations that are described by the patient, such as pain, nausea, or shortness of breath.

Syndrome

A group of signs and symptoms that occur together.

Prevention

Strategies used to avoid the development of disease in individuals or groups.

Prognosis

The expected outcome of a disease.

Remissions

Periods when symptoms disappear or diminish significantly.

Exacerbations

Periods when symptoms become worse or more severe.

Cellular Adaptation

Method in which cells try to prevent their death from environmental changes by modifying in size, number, or type.

Atrophy

A decrease in size and number of cells along with decreased energy usage, occurring from disuse or lack of use.

Hypertrophy

An increase in cell size resulting from an increase in workload and demand, commonly affecting cardiac and skeletal cells.

Hyperplasia

An increase in the number of cells in a tissue or organ, usually as a result of normal stimuli affecting epithelial cells.

Dysplasia

Deranged cellular growth (also called atypical hyperplasia) where normal cells mutate into pre-cancerous cells with abnormal shape and size.

Metaplasia

A pathologic change due to chronic irritation and/or inflammation in which normal cells are replaced by abnormal cells.

Hypoxia

Lack of sufficient oxygen within cells; it is the most common cause of cell injury.

Ischemia

Decreased blood flow to tissue or an organ; it is the most common cause of hypoxia.

Necrosis

Death of most or all cells in an organ or tissue due to damage from disease, injury, or lack of blood supply.

Apoptosis

A mechanism of programmed cell death that occurs because of morphological changes in cells.

Neoplasia

Abnormal and uncontrolled cell growth that may lead to a tumor.

Neoplasm

A cellular growth that is no longer responding to normal regulatory processes, usually because of a mutation; also called a tumor.

Carcinoma in situ

Cell changes that appear cancerous but have not spread from where they first formed.

Benign Cancer

Tumors consisting of well-differentiated cells similar to normal cells, exhibiting slow growth, usually encapsulated, and non-metastatic.

Malignant Cancer

Cancer characterized by rapidly growing, poorly differentiated cells that vary in size and shape, lack a capsule, and invade nearby tissues or metastasize.

Anaplasia

Loss of cellular differentiation, characteristic of malignant cells.

Pleomorphic

Having variability in cell size and shape along with an absence of normal tissue organization.

Metastasis

The spread of cancer cells far beyond their tissue of origin.

Gene

Chunks of DNA that contribute to traits or functions.

Alleles

Different versions of a gene.

Homozygous gene

A gene containing identical alleles (dominant/dominant or recessive/recessive).

Heterozygous gene

A gene containing two different alleles (dominant/recessive).

Karyotype

A picture of chromosomes.

Phenotype

The physical expression of a karyotype.

Autosomal Dominant

Single gene mutations passed from affected parent to offspring regardless of sex, where both homozygous and heterozygous individuals present with disease.

Marfan's Syndrome

An autosomal dominant disorder of connective tissue resulting in tall stature, long extremities, narrow face, lens displacement, and aortic defects.

Neurofibromatosis

An autosomal dominant disorder characterized by nervous system tumors arising from Schwann cells.

Autosomal Recessive

Single gene mutations passed from parent to offspring regardless of sex, requiring two copies (homozygous) to express the disease.

Phenylketonuria (PKU)

An autosomal recessive metabolic error involving an enzyme deficiency for phenylalanine that leads to toxic levels and CNS damage.

Tay-Sach's Disease

An autosomal recessive deficiency or absence of hexosaminidase A leading to a buildup of lipids in nerve cells.

Cystic Fibrosis

An autosomal recessive mutation on the 7th pair of chromosomes causing thick, sticky mucus that affects the lungs and digestive system.

Fragile X Syndrome

An X-linked disorder caused by hypermethylation and inactivation of the FMR1 gene due to over 200 CGG repeats, impairing neural tube development protein.

Multifactorial Disorders

Disorders resulting from environmental factors interacting with multiple genes without a specific pattern of single gene inheritance.

Down Syndrome

A chromosomal condition (Trisomy 21) caused by having 3 copies of chromosome #21.

Turner's Syndrome

A chromosomal condition (Monosomy X) caused by the deletion of part or all of an X chromosome in females.

Klinefelter's Syndrome

A chromosomal condition (Polysomy X) in males caused by an extra X chromosome alongside a Y chromosome.

Epigenetics

The study of changes in organisms caused by modification of gene expression rather than alteration in the genetic code itself.

DNA methylation

An epigenetic mechanism that results in the silencing of genes.

Histone modification

An epigenetic mechanism that involves increasing or decreasing the coiling of histones around DNA.