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Patho Study Guide

Pathophysiology Midterm Study Guide

QuestionAnswer
Heterozygous (definition) Having two different alleles of a particular gene or genes.
Homozygous (definition) Having two identical alleles of a particular gene or genes.
Genotype (definition) The genetic constitution of an individual organism; genotype can also be used to refer to the alleles or variants an individual carries in a particular gene.
Phenotype (definition) The set of observable characteristics of an individual resulting from the interaction of its genotype with the environment.
Allele (definition) One of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome.
Klinefelter Syndrome A genetic condition in which a male has an extra X chromosome
Down Syndrome A condition in which a person has an extra chromosome.
Turner Syndrome A condition affecting female, due to partially or completely missing sex chromosome. Most of them can lead a normal life with regular medical care.
Cri Du Chat Syndrome Is a chromosomal condition that results when a piece of chromosome number 5 is missing.
Huntington Disease A condition that leads to progressive degeneration of nerve cells in the brain that affects movement, cognitive functions, and emotions.
Cystic Fibrosis A genetic disorder in which the lungs and the digestive system get clogged with mucus.
Duchenne Muscular Dystrophy An inherited disorder characterized by progressive muscular weakness. Children with DMD will have difficulty standing and walking.
Neurofibromatosis A disorder of the nervous system affecting development of nerve cell tissues.
Transmission of Genetic Disease Autosomal Dominant- you only need one mutated gene to be affected by this type of disorder. Autosomal Recessive- you inherit two mutated genes, one from each parent.
Translation The process in which ribosomes in the cytoplasm or endoplasmic reticulum synthesize proteins after the process of transcription of DNA to RNA in the cell's nucleus.
Translocation A phenomenon that results in unusual rearrangement of chromosomes.
Transcription Is the process by which the information in a strand of DNA is copied into a new molecule of messenger RNA (mRNA)
Gene Splicing A term used to refer to the process by which the DNA of an organism is cut and a gene, perhaps from another organism is inserted.
Frameshift Mutation A mutation caused by the addition or deletion of a base pair(s) in the DNA of a gene resulting in the translation of a genetic code in an unnatural reading frame from the position of the mutation to the end of the gene.
Necrosis the death of most or all of the cells in an organ or tissue due to disease, injury, or failure of the blood supply.
Apoptosis the death of cells which occurs as a normal and controlled part of an organism's growth or development.
Autophagy consuming the body's own tissue as a metabolic process occurring in starvation and certain diseases.
Types of Necrosis Avascular-blood flow to the bone tissue is compromised. Osteo (jaw)- bone cells in the jaw die. Pulp- when the soft flesh (pulp) inside the tooth dies. Spider Bite- brown recluse bite Skin- blood flow to skin tissue is compromised
Types of Necrosis Renal Papillary- kidney disorder that occurs when the renal papillary of the kidneys dies. Radiation-rare side effect of radiation treatment Acute Tubular- tubules of kidneys damaged (acute kidney failure) Pancreatic-acute pancreatitis causing necrosis
Types of Necrosis Fat Necrosis of the Breast- non cancerous condition occurs when fatty tissue of the breast is damaged.
X-Linked inheritance a gene mutation occurs on the sex chromosomes. (recessive or dominant)
Innate Immunity (natural immunity) provides early line of defense against microbes.
Adaptive Immunity (specific or acquired) recognizes and reacts to a large number of microbial and non microbial substances.
Processes associated with inflammation Invasion of tissue by organism; Activation of local histiocytes in the tissues; Biochemical messages and body response; Dendritic cells
Cytokines: Interleukins and Interferons Interleukins modulate growth, differentiation, and activation during inflammatory and immune response. Interferons combat bacterial and parasitic infections, inhibit cell division, and promote or impede differentiation of cells.
Bradykinin compound released in the blood in some circumstances that causes contraction of smooth muscle and dilation of blood vessels.It is a peptide comprising nine amino-acid residues.
Carboxypeptidase protease enzyme that hydrolyzes a peptide bond at the carboxy terminal end of a protein or peptide.
Histaminase amine that is produced as part of a local immune response to cause inflammation. Several important functions in the bowel and acts as neurotransmitter or chemical messenger that carries signals from one nerve to another.
Kinase an enzyme that catalyzes the transfer of a phosphate group from ATP to a specific molecule.
C1 inhibitors a protein found in the fluid part of blood.
Plasmin enzyme formed in the blood in some circumstances, which destroys blood clots by attacking fibrin.
Exudate Types Fibrinous- cloudy and thin white strands of fibrin. Serous- clear, amber, thin and watery plasma. Purulent- thick and opaque that is tan, green, yellow, or brown. Hemorrhagic- red, viscous, milky.
Systemic Lupus Erythematous an autoimmune disease, with systemic manifestations including skin rash, erosion of joints, or kidney failure.
Hypersensitivity Reactions Immediate Cytotoxic Immune complex-mediated Delayed
Acid Base Imbalances Acidosis-levels of acid in the blood are too high. Alkalosis-blood is too alkaline. Respiratory (Acid/Alk) due to a lung problem. Metabolic (Acid/Alk) due to renal problem.
Metastasis the development of secondary malignant growths at a distance from a primary cancer site.
Viruses associated with cancer Hep-B, Hep- C, Epstein-Barr, HIV
Symptoms commonly reported with cancer *Fatigue* weight changes, skin changes, bloated
Retinoblastoma Gene an eye cancer that begins in the back of the eye (retina) It causes red eye and eye swelling. Commonly occurs in young children rarely among adults.
Carcinoma in situ encapsulated, has not yet invaded the basement membrane and there is no stromal invasion.
Benign vs Malignant Benign is non cancerous; Malignant is cancerous
Sensory Deficits Blindness, Hearing Loss, Deaf-Blindness, Sensory Processing Disorder.
Sleep Apnea pathophysiology and risk factors Daytime fatigue, high blood pressure, type 2 diabetes, liver problems, and metabolic syndrome
Vertigo a sense of spinning experienced even when someone is perfectly still
Heat Cramps, Exhaustion, Stroke Heat Cramps- Involuntary spasm of muscles that occur in an individual who is active in hot or humid weather. Heat Stroke- caused by overheating of the body, can lead to death.
Meningitis infection of the meninges, protective tissue of the brain that causes stiff neck, headache, and fever.
Kernig Sign test used in a physical examination to look for evidence of irritation of the meninges.
Brudzinski Sign any of the three medical signs, all of which occur in meningitis or meningism
Encephalitis inflammation of the brain usually caused by an infection that causes flu like symptoms like headache or fever.
Multiple Sclerosis A disease that affects the central nervous system. The immune system attacks the myelin, the protective layer around nerve fibers and causes inflammation and lesions. This makes it difficult for the brain to send signals to the rest of the body.
Subdural Hematoma bleeding under the membrane covering called the dura
Epidural Hematoma accumulation of blood between the dura mater(tough outer membrane covering the brain) and the skull.
Spondylolisthesis a spinal disorder in which one vertebra slips onto the vertebra below it. Causes pain in the lower back or legs.
Cauda Equina Syndrome rare and severe type of spinal stenosis where all of the nerves of the lower back suddenly become compressed.
Herniated Nucleus Pulpous most common cause of sciatic pain and one of the most common indications for spinal surgery.
Spinal Stenosis a condition where spinal column narrows and compresses the spinal cord.
Cerebral Vascular Accident Sudden loss of brain functioning resulting from a disruption of the blood supply to a part of the brain.
Ischemic Stroke Stoke caused by a blood clot in the brain.
Hemorrhagic Stroke condition in which a blood vessel in the brain ruptures and causes bleeding in the brain. Presents as severe headache, tingling, paralysis in the face, arm, or leg, trouble swallowing, vision loss, loss of balance and loss of consciousness or confusion.
Intracranial Aneurysm Bulging or Ballooning of the artery due to weakness in the vessel that supplies blood to the brain.
Transient Ischemic Attack (TIA) a brief, stroke like event in which symptoms usually resolve in 24 hours.
Myasthenia Gravis neuromuscular disorder that leads to weakness of skeletal muscles.
Spinal Cord Injuries Complete or Incomplete
Irritative Syndrome chronic GI disorder that affects the large intestine causing diarrhea, abdominal pain, bloating, cramps and flatulence.
Amyotrophic Lateral Sclerosis (ALS) progressive neurological disorder that results in weakend and deformed muscles.
Spinal Shock applies to all the phenomena surrounding physiologic or anatomic transection of the spinal cord that results in the temporary loss or depression of all or most spinal reflex activity below the level of injury.
Somatopause decline in growth hormones, testosterone and insulin like growth factor-1
Factors affecting insulin secretion amount of glucose moving from the blood into the beta cells of the pancreas.
Addison Disease long term endocrine disorder resulting from insufficient amounts of hormones released by the adrenal glands.
Gestational Diabetes development of diabetes during pregnancy.
Syndrome of inappropriate antidiuretic hormone a condition in which the body produces excess ADH leading to water retention and low sodium levels in the body. Can cause hallucinations, disorientation, nausea, and in severe cases coma.
Graves Disease immune system disorder resulting in the overproduction of thyroid hormone. Causes swelling of the thyroid gland, puffy eyes and rapid heart rate,
Diabetes Insipidus (DI) a condition that results from an imbalance of water in the body. This causes extreme thirst, frequent and excessive urination.
Acromegaly A rare condition which results from excessive production of growth hormone by the pituitary gland. Causes enlarged bones in the face, hands, and feet.
Cushing Syndrome Abnormally high levels of cortisol causing obesity, fatty deposits in the midsection, face, between the shoulders, and upper back.
Prolactinoma a tumor in the pituitary gland that produces an excessive amount of prolactin hormone. Causes decreased levels of sex hormone in both men and women.
Congenital Adrenal Hyperplasia a group of rare genetic disorders that reduce certain hormone production in the adrenal glands.
Type 1 Diabetes Symptoms: excessive thirst, excessive hunger, fatigue, blurred vision, unexplained weight loss, slow healing of cuts and sores.
Type 2 Diabetes Kidney failure, frequent urination, sudden weight loss, hyperosmolar hyperglycemic nonketotic syndrome
Hyperthyroidism (Signs of a thyroid storm) irregular heart beat, swollen thyroid glands, hot flashes. Heart rate, temp, BP can soar to dangerously high levels.Can be fatal
Hypothyroidism Symptoms: fatigue, weight gain, constipation, dry skin, joint pain, commonly caused by auto immune disorder.
Hyperparathyroidism complications fatigue, muscle weakness, depression, body aches, loss of appetite, constipation, nausea, vomiting, excessive thirst and urination, kidney problems, memory loss and confusion.
Created by: Janelleu4771
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