Pathophysiology and Mastery List Flashcards

Vocabulary flashcards generated from the mastery list revision transcript covering cell biology, genetics, cardiovascular pathology, valvular disorders, and homeostatic mechanisms.

Pathogenesis

How a disease develops once the cause (etiology) is identified.

Clinical course

How a disease progresses over time.

Cross-sectional study

A study that measures exposure and outcome at the same time, serving as a snapshot.

Prokaryotic cells

Cells that consist of bacteria ONLY, not viruses.

Intracellular electrolytes

Electrolytes found inside the cell, consisting of potassium, magnesium, phosphate, and some protein.

Extracellular electrolytes

Electrolytes found outside the cell, consisting of sodium, calcium, bicarbonate, and chloride.

Flagellum

A single fingerlike projection involved in cell shape and movement (such as in sperm cells).

Epithelial tissue

Avascular tissue that lines body surfaces, organs, cavities, and blood vessels, resting on a basement membrane and receiving nutrients from nearby capillaries.

Interphase

The cell cycle stage in which the cell grows normally, undergoes no cell division, and copies DNA.

G₂/M checkpoint

A cell cycle checkpoint where DNA is checked for mutations before mitosis.

Dysplasia

Disordered cell growth characterized by abnormal cell size, shape, and organization.

Reactive oxygen species

Unstable oxygen-containing molecules with unpaired electrons that can damage cell membranes, proteins, and DNA, potentially causing cancer through DNA damage and mutations.

Oxidative stress

Cellular damage that occurs when reactive oxygen species exceed antioxidant defenses.

Dry gangrene

Gangrene caused by a gradual reduction in arterial blood supply, resulting in dry, shriveled, dark/black tissue with a clear line of demarcation, usually not initially infected.

Wet gangrene

Gangrene caused by loss of blood supply plus bacterial infection, causing tissue to become swollen, moist, soft, foul-smelling, and rapidly spreading with high risk for sepsis.

Gas gangrene

A medical emergency usually caused by Clostridium bacteria in a deep wound, producing gas and toxins that lead to severe pain, swelling, tissue destruction, crepitus, and systemic toxicity.

Necrosis

Disorderly cell death that causes inflammation as cell contents leak out.

Dystrophic calcification

Calcification occurring with a normal serum calcium level in dead or dying tissue.

Metastatic calcification

Calcification occurring with an elevated serum calcium level in normal or healthy tissue.

Germ cell mutation

A mutation in a germ cell that can be inherited by offspring.

Somatic cell mutation

A mutation that only affects the mutated cell and cannot be passed down.

Congenital disorder

A disorder present at birth that may be genetic, environmental, multifactorial, or unknown in cause.

Organogenesis

The period approximately between days $15$–$60$ when major organs form and are vulnerable to structural defects.

Marfan syndrome

An autosomal-dominant fibrillin disorder causing long limbs, lens dislocation, and risk of aortic aneurysm or dissection.

Turner syndrome

A female chromosomal disorder caused by Monosomy X ($45, X$) causing short stature, amenorrhea, infertility, and possible coarctation of the aorta, unaffected by advanced maternal age.

Klinefelter syndrome

A male chromosomal disorder caused by an extra X chromosome ($47, XXXY$) causing small testes, low testosterone, and infertility.

Neurofibromatosis

An autosomal-dominant disorder causing nerve tumors, café-au-lait spots, and neurofibromas, with NF2 causing hearing loss.

Fragile X syndrome

An X-linked CGG-repeat expansion that causes intellectual disability and generally affects males more severely.

Tay-Sachs disease

An autosomal-recessive hexosaminidase A deficiency causing GM2 accumulation and progressive neurologic deterioration.

Phenylketonuria (PKU)

An autosomal-recessive phenylalanine hydroxylase deficiency causing phenylalanine accumulation, neurotoxicity if untreated, rash, and a musty odor.

Mitochondrial disorders

Maternally inherited disorders that mainly damage high-energy tissues such as the brain, muscles, heart, and retina, often causing hearing loss or deafness.

Neural tube defects

Defects such as spina bifida or anencephaly resulting from failure of the neural tube to close early in pregnancy; risk is reduced with $400\text{ mcg}$ of folic acid daily.

Fetal Alcohol Syndrome

Condition resulting from prenatal alcohol exposure causing growth restriction, characteristic facial features, and permanent CNS/brain damage.

Anaplasia

Loss of differentiation in which malignant cells no longer resemble their tissue of origin.

Pleomorphism

Abnormal variation in the size and shape of cells and their nuclei.

Neuroblastoma

A childhood solid tumor arising from the sympathetic nervous system, commonly in the adrenal gland.

Mitral stenosis

Narrowing of the mitral valve preventing full opening during diastole, causing a diastolic murmur, left atrial hypertrophy, and pulmonary congestion; rheumatic fever is a common cause.

Mitral regurgitation

Incomplete closure of the mitral valve during systole causing blood to flow backward into the left atrium, resulting in a systolic murmur, shortness of breath, and left ventricular enlargement.

Aortic stenosis

Narrowed aortic-valve opening causing increased resistance to left ventricular outflow, presenting with a loud systolic ejection murmur, angina, syncope, left ventricular hypertrophy, and left-sided heart failure.

Aortic regurgitation

Inability of the aortic valve to close properly during diastole, causing backward flow into the left ventricle, left ventricular dilation, a diastolic murmur after S2, exertional dyspnea, orthopnea, and PND.

Mitral valve prolapse

Condition in which degenerated, floppy mitral valve leaflets prolapse into the left atrium during systole, producing a midsystolic click followed by a late systolic murmur.

Myocarditis

Inflammation of the heart muscle without evidence of MI, which can weaken cardiac contractions and conduction, leading to arrhythmia and heart failure.

Dilated cardiomyopathy

Cardiomyopathy characterized by an enlarged left ventricle, decreased contractility, and ejection fraction below approximately $25\text{\%}$, commonly caused by chronic heavy alcohol use.

Hypertrophic cardiomyopathy

Cardiomyopathy characterized by thickened heart muscle that may obstruct ventricular outflow and make pumping difficult.

Restrictive cardiomyopathy

Cardiomyopathy characterized by stiff ventricles that cannot relax or fill normally.

Arrhythmogenic right ventricular cardiomyopathy

Cardiomyopathy in which right-ventricular muscle is replaced by fatty and fibrous tissue, causing arrhythmias.

Ductus venosus

Fetal shunt that connects the umbilical vein to the IVC, bypassing the liver.

Foramen ovale

Fetal shunt that connects the right atrium to the left atrium, bypassing the lungs.

Ductus arteriosus

Fetal shunt that connects the pulmonary artery to the aorta, bypassing the lungs.

Tetralogy of Fallot

Congenital condition where pulmonary stenosis elevates right-sided heart pressure, promoting a right-to-left shunt that delivers deoxygenated blood into systemic circulation.

Ventricular tachycardia

Cardiac arrhythmia where ventricles beat rapidly, leading to decreased relaxation filling time, decreased stroke volume, and reduced cardiac output.

Paroxysmal supraventricular tachycardia (PSVT)

Sudden, regular tachyarrhythmia originating above the ventricles characterized by a very narrow QRS complex and reentry mechanism.

Wolff-Parkinson-White syndrome

Condition featuring an abnormal accessory pathway connecting atria and ventricles bypassing the AV node, leading to early ventricular activation and increased risk of tachyarrhythmias.

Phase 0 of cardiac action potential

Rapid ventricular depolarization caused by sodium influx, corresponding to the QRS complex on an EKG.

Phase 2 of cardiac action potential

Plateau phase of ventricular action potential where calcium enters and potassium slowly leaks out, corresponding to the ST segment on an EKG.

Phase 3 of cardiac action potential

Ventricular repolarization caused by potassium exiting the cell, corresponding to the T wave on an EKG.

Negative feedback

Homeostatic mechanism that always reverses a change to return conditions back to the set point.

Positive feedback

Homeostatic mechanism that amplifies a change above the set point.