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Pathophysiology exam 1
genotype vs phenotype - The composition of genes at a given locus is known as the genotype. The outward appearance of an individual, which is the result of both genotype and environment, is the phenotype. principle of segregation - Mendel homologous genes separate from each other and each sex cell carry only one copy of a homologous gene principle of independent assortment - the hereditary transmission of one gene does not effect the transmission of another incomplete penetrance - gene mutation may cause a genotype to not express as the expected phenotype obligate carrier - if you have a parent and a child with a condition- then you must carry the gene expressivity - Expressivity is the extent of variation in phenotype associated with a particular genotype. If the expressivity of a disease is variable, penetrance may be complete but the severity of the disease can vary greatly. Huether, Sue E.; McCance, Kathryn L. (2015-12-23). Understanding Pathophysiology - E-Book (Kindle Locations 3018-3019). Elsevier Health Sciences. Kindle Edition.
sex determination - region on the short arm of the Y chromosome that determines sex by initiating gonadal development if SRY is not expressed, then an XY will express as female irreversible injury - example is a myocardial infarction (irreversible) versus ischemia Injured cells may recover (reversible injury) or die (irreversible injury). In reversible injury, cells recover Huether, Sue E.; McCance, Kathryn L. (2015-12-23). Understanding Pathophysiology - E-Book (Kindle Locations 4340-4341). Elsevier Health Sciences. Kindle Edition. hypoxia - most common cause of cellular injury Lack of oxygen flow loss of hemoglobin poisoning of oxidative enzymes within the cells (cytochromes) end result is necrosis ischemia reperfusion injury results from restoration of blood flow and resulting complement activation, oxidative stress and increased intracellular calcium cytochromes - electron transfer agents in metabolic pathways heme-binding protein compound reperfusion injury -
mycoses - diseases caused by fungus tineas (ringworm hypersensitivity - allergy- anaphylactic reaction- immediate onset, skin hives, airway obstruction type I- hypersensitivity- IgE mediated, binds to Fc receptors on moast cells, releases histamines H1 in airways, causes constriction in smooth muscle H2 in stomach causing increased gastric secretion type II autoimmunity alloimmnity- lupus - most serious autoimmune disorder SLE is characterized by the production of a large variety of antibodies (autoantibodies) against self- antigens, including nucleic acids, erythrocytes, coagulation proteins, phospholipids, lymphocytes, platelets, and many other self-components. The most characteristic autoantibodies are against nucleic acids Because the signs and symptoms affect almost every body system and tend to vacillate, SLE is extremely difficult to diagnose.
Huether, Sue E.; McCance, Kathryn L. (2015-12-23). Understanding Pathophysiology - E-Book (Kindle Locations 11182-11184). Elsevier Health Sciences. Kindle Edition. upper vs lower motor neurons - upper motor neurons is for fine motor movements (muscles) - completed contained within CNS recovery is possible within weeks lower motor neurons- gray matter (Brainstem and spinal cord) destruction results in paralysis structural alterations in arousal (supratentorial, infratentorial, metabolic) - supratentorial disorders effect the cerebral cortex and subcortical white matter Can be extra or intracerebral impair thalamic and hypothalamic systems infratentorial- caused by destruction of brain stem, pons or medulla metabolic- decline in arousal due to alterations in delivery of energy substrates as occurs with hypoxia, electrolyte disturbances, or hypoglycemia. Metabolic disorders caused by liver or renal failure cause alterations in neuronal excitability because of failure to metabolize or eliminate drugs and toxins. All Huether, Sue E.; McCance, Kathryn L. (2015-12-23). Understanding Pathophysiology - E-Book (Kindle Locations 19595-19597). Elsevier Health Sciences. Kindle Edition. forms of neurological death - Brain death (total brain death) occurs when the brain is damaged so completely that it can never recover (irreversible) and cannot maintain the body's internal homeostasis. State laws define brain death as irreversible cessation of function of the entire brain including the brainstem and cerebellum. no ocular response pupils dialated
results from dysfunction in the left cerebral hemisphere (i.e., Broca area [inferior frontal gyrus] and Wernicke area [superior temporal gyrus]) and the subcortical and cortical connecting networks Huether, Sue E.; McCance, Kathryn L. (2015-12-23). Understanding Pathophysiology - E-Book (Kindle Locations 19953-19955). Elsevier Health Sciences. Kindle Edition. data processing deficits - seizures - Sudden, transient alteration of brain function caused by abnormal excessive discharges of cortical neurons symptom of many underlying causes- fevers, epilepsy, trauma, brain tumor, toxicity health history, physical exam, lab tests and brain imaging and CSF testing treatment is to treat the underlying cause- then to medicate seizure phases - -prodromal - malaise, headache, depression, -sense of imminence of seizure (aura) -ictal- tonic-clonic- alternating contraction and release of muscle tone postictal status epilecticus- seizure doesn't stop
cerebral edema types - vasogenic - damage to vascular structure of the brain, increasing permeability of blood brain barrier, drawing proteins and water to the parenchyma- manifests as neurological deficits and increasing ICP treated with diuretics (mannitol) cytotoxic- toxic elements damage brain cells, causing sodium concentration and water concentration and swelling interstitial- hydrocephalus parkinson disease - gait is effected low dopamine ALS - muscle wasting focused on lower motor hematoma - epidural - in dura mater subdural- beneath dura mater slow vs insidious onset concussion - mild- immediate but transitory clinical manifestations classic- loss of consciousness greater than 6 hours associated with amnesia. transient cessation of respiration
metabolic- alterations in delivery of energy substrates: hypoxia, electrolytes or glucose or psychogenic- physiologically awake, but unresponsive- signals psychiatric disorders levels of altered consciousness - confusion- loss ability to think clearly and impaired judgment disorientation- losing track of time and place and person, impaired memory lethargy- limited spontaneous movement obtundation- limited response to environment, sleep is default stupor- deep sleep aroused only by vigorous stimulation coma stages- alzheimer's - Early-onset familial Nonhereditary (sporadic, late onset) Theories: Mutation for encoding amyloid precursor protein Alteration in apolipoprotein E Neurofibrillary tangles Senile plaques Clinical manifestations: Forgetfulness Emotional upset
Disorientation Confusion Lack of concentration Decline in abstraction, problem solving, and judgment Diagnosis is made by ruling out other causes of dementia hypersensitivies - Type 1- IgE mediated- Most common allergic reactions to enviornmental allergens. Manifestations due mostly to type II- reactions to a specific cell or tissue- cells are destroyed by antibody and complement type II- not organ specific type IV- not antibody mediated
