Genetics, Fluids, Electrolytes, pH, and Inflammation & Immune Response (Vocabulary Flashcards)

Vocabulary flashcards covering genetics, fluids and electrolytes, acid-base balance, and inflammation/immune response from the lecture notes.

Down Syndrome (Trisomy 21)

A genetic condition caused by an extra copy of chromosome 21, leading to characteristic features and developmental delays.

Autosomal Recessive

Requires both parents to pass on the defective allele; affected individuals are homozygous recessive; carriers (heterozygous) show no disease signs.

Cystic Fibrosis

An autosomal recessive disorder caused by CFTR gene mutations, affecting mucus-producing glands and organs such as lungs and pancreas.

Phenylketonuria (PKU)

An autosomal recessive metabolic disorder due to phenylalanine hydroxylase deficiency, leading to elevated phenylalanine levels.

Tay-Sachs Disease

An autosomal recessive neurodegenerative disorder caused by HEXA gene defect, leading to progressive neurologic deterioration.

Autosomal Dominant

Inheritance where a single mutated allele causes disease; affected individuals often have affected parents and there are typically no carriers.

Punnett Square

A genetic tool to predict possible allele combinations and resulting genotypes/phenotypes in offspring.

Osmoreceptors

Hypothalamic receptors that detect plasma osmolality changes and trigger thirst to regulate fluid balance.

Edema

Accumulation of excess fluid in the interstitial space causing swelling and potential impairment of tissue perfusion.

Edema Causes

Increased capillary hydrostatic pressure, loss of plasma proteins, obstruction of lymphatic circulation, or increased capillary permeability.

Dehydration

Fluid volume deficit due to inadequate intake or excessive loss of water and electrolytes.

Normal Sodium Level

135–145 mEq/L.

Normal Potassium Level

3.5–5.0 mEq/L.

Normal Calcium Level

8.5–10.5 mg/dL.

Normal Magnesium Level

1.7–2.2 mg/dL.

Hypokalemia

Low potassium; can cause cardiac irritability and arrhythmias, including ventricular tachycardia.

Hyperkalemia

High potassium; can cause dangerous arrhythmias due to altered resting membrane potential.

Hypernatremia

High sodium; can cause agitation and confusion.

Hyponatremia

Low sodium; can cause stupor, drowsiness, and coma.

Hypercalcemia

High calcium; can cause weakness, shortened QT interval, and arrhythmias.

Hypocalcemia

Low calcium; can cause muscle cramps, tetany, Chvostek's sign, and paresthesias.

Hypermagnesemia

High magnesium; leads to depressed neuromuscular function and reflexes.

Hypomagnesemia

Low magnesium; can cause malabsorption, weakness, and torsades de pointes in prolonged QT.

ABG Interpretation

Arterial blood gas analysis to identify acid-base disturbances and distinguish respiratory vs metabolic imbalances: Respiratory acidosis (pH down, PaCO2 up); Respiratory alkalosis (pH up, PaCO2 down); Metabolic acidosis (pH down, HCO3 down); Metabolic alkalosis (pH up, HCO3 up).

Local Inflammation Signs

Redness, heat, swelling, pain, and loss of function.

Systemic Inflammation Signs

Fever, leukocytosis, malaise, headache, anorexia.

Acute vs Chronic Inflammation

Acute is the immediate response; chronic lasts >6 months and features lymphocytes, macrophages, fibroblasts, and fibrous scar tissue; chronic can develop from acute.

Histamine

Mast cell–derived mediator causing immediate vasodilation and increased capillary permeability.

Chemotactic Factors

Substances from mast cells that attract neutrophils to the site of injury.

Platelet-Activating Factor

A lipid mediator from platelets that activates neutrophils and promotes platelet aggregation.

Cytokines

Signaling proteins from T lymphocytes and macrophages that raise plasma proteins, induce fever, promote chemotaxis and leukocytosis.

Leukotrienes

Mediators from arachidonic acid in mast cells; promote later vasodilation, permeability, and chemotaxis.

Prostaglandins

Arachidonic acid–derived mediators causing vasodilation, increased permeability, pain, fever; amplify histamine effects.

Kinins

Mediators that promote vasodilation, increased permeability, pain, and chemotaxis via the plasma protein cascade.

Complement System

Cascade of plasma proteins that promotes vasodilation, permeability, chemotaxis, and histamine release during inflammation.

Autoimmune Disorders

Conditions in which the immune system misidentifies self as foreign and attacks body's own tissues.

Opportunistic Infections (OIs)

Infections by pathogens that do not normally cause disease in healthy people, becoming pathogenic when the immune system is compromised.