PHC 271: Introduction to Disease Vocabulary Flashcards

A comprehensive vocabulary review flashcard deck based on the PHC 271: Introduction to Disease lecture slides.

Gamete

An egg or sperm cell that represents a potential reproductive contribution to the next generation.

Mosaicism

A situation in which a genetic alteration is present in some but not all of the cells of a single individual.

Locus

The specific place where a particular gene lies on its chromosome.

Penetrance

Refers to whether or not the variant genotype can be inferred based on defined phenotypic criteria.

Variable Expressivity

The phenomenon in which the same mutated gene can give rise to a different spectrum of phenotypes.

Hemizygosity

The presence of only one allele at a locus because the other allele is deleted or normally not present.

Genetic Anticipation

A phenomenon where the severity of a genetic syndrome appears to progress with every generation of inheritance.

Severe Combined Immunodeficiency Disease (SCID)

A heterogeneous group of disorders characterized by a failure in the cellular maturation of lymphoid stem cells, presenting with absence of normal thymic tissue and devoid of lymphocytes in secondary lymphoid tissues.

DiGeorge Syndrome

A cell-mediated immunodeficiency manifesting through defective embryonic development of organs derived from the third and fourth pharyngeal arches, including the thymus, parathyroids, and cardiac outflow tract.

Commensals

Organisms that live symbiotically on or within the human host but rarely cause disease.

Sepsis

The presence of Systemic Inflammatory Response Syndrome (SIRS) associated with an infectious precipitant.

Erythropoietin

A peptide hormone produced by the kidneys that regulates red blood cell production by stimulating bone marrow erythrocyte production and maturation.

Parkinsonism

A clinical syndrome characterized by rigidity, bradykinesia, tremor, and postural instability.

Seizure

A paroxysmal disturbance in cerebral function caused by an abnormal synchronous discharge of cortical neurons.

Chronic Bronchitis

A condition defined by a clinical history of productive cough for $3\,\text{months}$ of the year for $2$ consecutive years.

Emphysema

A pulmonary condition marked by irreversible enlargement of the airspaces distal to the terminal bronchioles, accompanied by destruction of their walls.

Law of Laplace

A biophysical principle stating that wall tension ($T$) in a hollow viscus equals the product of transmural pressure ($P$) and radius ($r$) divided by wall thickness.

Autoregulation

The ability of many tissues to maintain a relatively constant blood flow during changes in perfusion pressure.

Esophageal Achalasia

A motor disorder in which the lower esophageal sphincter fails to relax properly, resulting in functional obstruction, dysphagia, regurgitation, and chest pain.

Cirrhosis

An irreversible distortion of normal liver architecture characterized by hepatic injury, fibrosis, and nodular regeneration.

Nephron

The anatomic unit of kidney function, comprising a tuft of capillaries termed the glomerulus and a renal tubule.

Glomerulonephritis

A syndrome resulting from glomerular capillary wall damage, characterized by a combination of hematuria, proteinuria, reduced GFR, and hypertension.