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Pathology
lung.cancer2.Genetic Disease
| Question | Answer |
|---|---|
| three classifications for human disease | 1. Genetic 2. Environmental 3. Both Genetic & environmental |
| Hereditary disorders | transmitted from parents through gamets through the generations |
| Familial | Genetic diseases transmitted through the generations |
| Congenital | "present at birth" |
| Mutation | Permanent changes in DNA |
| Somatic | Somatic: 1. Relating to the body. a. As distinguished from the mind (the psyche). b. As distinguished from the gonads. |
| point mutation | Replacement of a single nucleotide base with a different base. Ex. sickle cell anemia |
| Missense mutation is the same as what kind? | Point mutation |
| Point mutation & stop codon | a point mutation can occur when a "stop" code is put in too early, meaning that the protein chain is not completely replicated |
| Frameshift mutations | Base pairs are altered |
| Trinucleotide repeat mutations | Guanine and Cytosine are repeated; this can cause retardation & other problems |
| Mendelian disorders | (blank) |
| lung major function | excrete CO2 and replenish Oxy |
| 4 areas of lung disease | airways; regulatory neural circuits; pleural spaces; upper respiratory tract (the nasopharynx and trachea, including the larynx |
| atelectasis (collapse) | loos of lung volume due to inadequate expansion of airspaces - associated with shunting inadequately oxygenated blood from pulmonary arteries into veins |
| resorption atelectasis | obstruction prevent air from reaching distal airways - usually mucous plug, but can be blood clots, foreign bodies (children swallowing) tumors |
| compression atelectasis | also called passive or relaxation atelectasis - accumulation of fluid, blood or air within pleural cavity, mechanically collapse the adjacent lung |
| microatelectasis | contraction of lungs - generalized loss of lung expansion due to complex events, but loss of surfactant in neonates; or adults post-surgergy |
| contraction atelectasis - | local or generalized fibrotic changes in the lung or pleura hamper expansion |
| 2 major forms of lung disease | obstructive or restrictive |
| obstructive (6 major forms) | limitation of airflow resulting from increase in resistance due to partial or complete obstruction at any level; major diseases: asthma, emphysema, chronic bronchitis, bronchiectasis, cystic fibrosis and bronchiolitis |
| restrictive disease | total lung capacity and FVC (forced vital capacity) is reduced - |
| restrictive disease - major diseases | can be caused by extrapulmonary disorders such as severe obesity, kyphoscoliosis and neuromuscular disorders aalso acute or chronic interstitial lung disease such as ARDS (Adult respiratory distress syndrome) pneumoconioses, idiopathic pulmonary fibrosis |
| asthma | episodic, reversible bronchospasm resulting from exaggerated bronchoconstrictor response to various stimul |
| extrinsic asthma | type I hypersenstivity reaction induced by exposure to extrinsic antigen - allergens, occupational or plumonary asperfillosis |
| common allergens | increased sensitiviy to bronchoconstrictive agents such as histamin or methacholine - activate mast cells, eosinophils and IgE |
| asthma - clinical course | svere dyspnea with wheezing; difficulty in experation - patient labors to get air in & then cannot get air out |
| status asthmaticus | prolonged severe attacks of asthma - occlusion of bronchi & bronchioles by thick, tenacious mucous plugs |
| chronic obstructive pulmonary disease | group of diseases; simply defined as airflow obstruction; most include bronchitis and emphysema in group |
| dyspnea | breathlessnes |
| emphysema | permanent enlargement of airspaces distal to terminal bronchioles accompanied by destruction of their walls |
| emphysema - clinical course | "pink puffers" patient is barrel-chested an dyspneic, with obviously prolong expiration, sitting forward in a hunched-over position, to squeeze air out of lungs |
| emphysema "blue bloaters" | usually obese patients who have congestive heart failure and become cyanotic |
| chronic bronchitis | persistent productive cough for at least 3 consecutive months in at least 2 consecutive years; smokers and people who live in smog-ridden cities |
| bronchiectasis | permanent dilation of bronchi and bronchioles due to destruction of the muscle and elastic supporting tissue, resulting from or associated with chronic necrotizing infections - not a primary disease; result of persistant infections |
| restrictive lung diseases also called | interstitial lung disease producing a "stiff lung" which reduces lung compliance and necessitates increased effort of breathing (dyspnea) - damaged air units (alveoli) cause hypoxia and respiratory failure |
Created by:
walterina4327