Health, Disease, Cellular Adaptation, Pathophysiology, and Genetics & Teratogens – Vocabulary Flashcards

Vocabulary flashcards covering definitions of health, disease, cellular adaptation, pathophysiology concepts, prevention levels, genetic disorders, chromosomal abnormalities, teratogens, prenatal testing, and genetic counseling as described in the lecture notes.

Health

A dynamic state of well-being in physical, mental, and social dimensions, not merely the absence of disease (holistic health).

Disease

A disruption in normal structure and function, reflecting a disturbance in homeostasis and often caused by genetic, environmental, infectious, or other factors.

Homeostasis

The body's ability to maintain a stable internal environment amid internal and external changes.

Holistic health

Health that encompasses physical, mental, and social well-being, not just absence of disease.

Acute disease

Diseases that appear suddenly and are typically short-lived.

Chronic disease

Diseases that persist over time and often have long-term health effects.

Degenerative disease

A disease that involves progressive deterioration of tissues.

Infectious disease

A disease caused by microorganisms such as bacteria, viruses, fungi, or parasites.

Neoplastic disease

Diseases characterized by abnormal cell growth, such as cancer.

Inherited disease

A disease transmitted genetically from parent to offspring.

Acquired disease

A disease that develops during life due to environmental or external factors.

Adaptation

The process by which cells, tissues, and organs adjust to stress to maintain homeostasis.

Atrophy

Decrease in cell size due to reduced demand, nutrients, or blood supply.

Hypertrophy

Increase in cell size (and often organ size) in response to increased workload or hormonal stimulation.

Hyperplasia

Increase in the number of cells in a tissue or organ, often due to increased mitotic activity.

Metaplasia

Reversible replacement of one differentiated cell type by another in response to stress.

Dysplasia

Abnormal changes in size, shape, and organization of cells; often precancerous and reversible if the stimulus is removed.

Physical stress

Stress from injury, trauma, or temperature extremes that affects cells and tissues.

Chemical stress

Stress from toxins, drugs, and pollutants that affect cells.

Biological stress

Stress from infections or immune disturbances affecting cells and tissues.

Psychological stress

Chronic emotional or mental strain contributing to physiological changes and disease.

Inflammation

The body's protective response to injury or infection, often with redness, swelling, pain, and heat.

Acute inflammation

Short-term inflammatory response that resolves after eliminating the cause.

Chronic inflammation

Persistent inflammation that can cause tissue damage and disease.

Hypoxia

Lack of oxygen, a common cause of cellular injury.

Ischemia

Reduced blood flow leading to tissue hypoxia.

Free radical damage

Cell damage caused by reactive oxygen species and other free radicals.

Oxidative stress

Damage caused by an imbalance between free radicals and antioxidants.

Necrosis

Unregulated, rapid cell death usually due to severe injury, often inflammatory.

Coagulative necrosis

Necrosis type where cell outlines are preserved, typical after ischemia (e.g., heart).

Liquefactive necrosis

Necrosis where tissue becomes liquefied, common in infections like brain abscesses.

Caseous necrosis

Cheese-like necrosis often seen in tuberculosis.

Fat necrosis

Necrosis of fat tissue due to enzymatic digestion or trauma.

Apoptosis

Programmed, controlled cell death that eliminates damaged or unnecessary cells with little inflammation.

Autophagy

Cellular process of digesting and recycling damaged organelles; may aid survival or lead to cell death under prolonged stress.

Signs

Objective findings observed by others (e.g., fever, rash, hypertension).

Symptoms

Subjective experiences reported by the patient (e.g., pain, fatigue).

Diagnosis

Process of identifying disease via clinical history, examination, and tests.

Primary Prevention

Measures to prevent disease occurrence (e.g., vaccination, smoking cessation).

Secondary Prevention

Early disease detection and intervention to prevent progression (e.g., screening).

Tertiary Prevention

Actions to reduce complications and manage existing disease (e.g., rehab, medications).

Genetic predisposition

Increased risk of disease due to inherited genetic factors.

Single-Gene Disorders

Disorders caused by mutations in a single gene following Mendelian patterns.

Autosomal Dominant

One mutated allele is sufficient to express the disorder; about 50% risk to offspring.

Autosomal Recessive

Two mutated alleles are required for disease expression; carriers may be asymptomatic.

X-Linked Disorders

Disorders caused by mutations on the X chromosome, often more severe in males.

Marfan syndrome

Autosomal dominant connective tissue disorder due to fibrillin-1 gene mutation.

Neurofibromatosis type 1 (NF1)

Autosomal dominant disorder with nerve-tumor growth and skin findings.

Huntington disease

Autosomal dominant neurodegenerative disease due to trinucleotide repeat expansion.

Cystic fibrosis (CF)

Autosomal recessive disease caused by CFTR gene mutation, leading to thick mucus in lungs and other tissues.

Phenylketonuria (PKU)

Autosomal recessive metabolic disorder due to phenylalanine hydroxylase deficiency.

Tay-Sachs disease

Autosomal recessive lysosomal storage disorder caused by Hexosaminidase A deficiency.

Sickle cell disease

Autosomal recessive hemoglobinopathy with sickled red blood cells under stress.

Down syndrome

Trisomy 21; intellectual disability and characteristic features.

Edwards syndrome

Trisomy 18; severe intellectual and physical disability often fatal in infancy.

Patau syndrome

Trisomy 13; severe CNS and facial defects with high neonatal mortality.

Turner syndrome

Monosomy X (45,X) in females; short stature, gonadal dysgenesis, infertility.

Klinefelter syndrome

Male with an extra X chromosome (47,XXY); tall stature, hypogonadism, infertility.

Cri-du-chat syndrome

Deletion of chromosome 5p; distinctive cry and intellectual disability.

Philadelphia chromosome

t(9;22) translocation producing BCR-ABL fusion gene; associated with CML.

Aneuploidy

Abnormal number of chromosomes due to nondisjunction (e.g., trisomies, monosomies).

Toxoplasmosis

TORCH infection caused by Toxoplasma gondii, risks to fetus if mother is infected during pregnancy.

TORCH complex

Group of congenital infections (Toxoplasmosis, Other, Rubella, CMV, HSV) that can affect fetal development.

Teratogens

Environmental agents that cause birth defects or fetal abnormalities; effects depend on timing, dose, and fetal genetics.

Radiation (teratogenic)

Ionizing radiation can cause fetal anomalies; timing and dose influence risk; non-ionizing radiation is generally safer.

Thalidomide

Teratogenic drug linked to limb malformations when exposure in pregnancy.

Fetal Alcohol Spectrum Disorders (FASD)

Range of effects from prenatal alcohol exposure, including facial features, growth issues, and cognitive impairments.

Valproic acid

Anticonvulsant with teratogenic risk including neural tube defects.

Warfarin

Teratogenic anticoagulant causing fetal malformations when used in pregnancy.

Isotretinoin (Accutane)

Teratogenic retinoid linked to severe birth defects.

Folic acid deficiency

Low folate during pregnancy associated with neural tube defects (e.g., spina bifida, anencephaly).

Neural tube defects

Birth defects of the brain and spinal cord due to failure of the neural tube to close properly.

Iodine deficiency

Deficiency leading to cretinism: severe mental and physical developmental delay.

Prenatal ultrasound

Imaging tool used early to detect structural fetal abnormalities.

Maternal Serum Screening

Blood tests in pregnancy measuring markers (AFP, hCG, estriol) to assess risk of certain conditions.

Amniocentesis

Prenatal test sampling amniotic fluid (usually 15–20 weeks) for fetal cells and markers.

Chorionic Villus Sampling (CVS)

Early prenatal test sampling placental tissue (10–13 weeks) for chromosomal/biochemical analysis.

Non-Invasive Prenatal Testing (NIPT)

Analyzes cell-free fetal DNA in maternal blood to detect trisomies and select abnormalities.

Newborn screening

Postnatal tests to detect inherited metabolic and other conditions early in life.

Genetic testing

Tests to confirm diagnoses, identify carriers, or guide treatment decisions.

Genetic counseling

Process of assessing family history, inheritance patterns, testing options, and psychosocial support.

Consanguinity

Intermarriage or reproduction between relatives, increasing risk of recessive disorders.