Applied Pathophysiology: Cellular Function - Chapter 1, Exams of Advanced Education

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APPLIED PATHOPHYSIOLOGY CHAPTER 1 CELLULAR FUNCTION

The study of the disorder or breakdown of the human body's function? - Pathophysiology. Disease usually occurs when? - A disruption in homeostasis or deviation. -Dynamic process -The relative consistency of the body's internal processes -Give and take system -Equilibrium is necessary for all cellsSelf-regulating -Compensatory -Negative feedback-most common; Ex-temp regulation -Positive feedback-Ex: blood clot -May use many means to correct one imbalance - Homeostasis Age Gender Genetic and ethnic background Geographic area Time of day Environment-altitude, temp, etc Remember findings are only relevant to the individual's "normal" - Factors that Determine Normality The cause of reason for the event? May sometimes include: Agents, age, gender, health, nutritional status, genetics, etc Idiopathic-unknown Iatrogenic-unintended affect of a medical treatment May be intrinsic or extrinsic - Etiology

Development and evolution of a disease, affected by time, quantity, location, and morphologic changes?

• Pathogenesis Includes S/S of the disease, stages of the disease, acute vs chronic? - Clinical manifestations Patterns of disease in a group of people? - Epidemiology The three levels of prevention: 1. do not have the disease and you are trying to prevent it; Ex: vaccines?
• Primary

2. Disease detection; Ex: Pap smears and yearly physicals? - Secondary
3. Trying to prevent problems from the disease or problem Ex: rehabilitation? - Tertiary What are some of the Cellular Attributes? - -Ability to exchange material with their environment -Ability to obtain energy from organic nutrients -Ability to manufacture complex molecules -Ability to replicate themselves Three major components of eukaryotic cells are? - 1. Nucleus
4. Cytoplasm
5. Cell Membrane Contains chromatin and nucleolus, At least one per cell Control Center, Genetic Code, Nucleoli? - Nucleus Place for cell work, Contains water, electrolytes, suspended protein, neutral fats, and glycogen, Contains the organelles? - Cytoplasm

Barrel-shaped bodies Aid in chromosomal division - Centrioles Threadlike structure - Microfilament Semi-permeable Contains receptors Involved in electrical conduction Regulates cell growth and proliferation Lipid bilayer Proteins - Cell Membrane Open and close ion channels Activates G protein-linked signals Activates enzyme-linked cell function - Membrane receptors Cellular Transportation: 1. Diffusion, 2. Osmosis, 3. Facilitated diffusion? - Passive When cells divide and reproduce? - Cell proliferation Workload is at a decreased state, Size of organelles decrease, Energy usage decreases, a rise in efficiency or a decrease in Functionality - Atrophy Increase of workload, Size of organelles increases, contractility increases, Rise in ability to meet demands or, a decrease in Functionality - Hypertrophy Increase workload of physiological state, Increase rate of cell divison, Increase tissue size by an increase number of cells, increase functionailty, ability to meet demands, and 2 types compensatory, and Hormonal - Hyperplasia

Pathological, Normal cells replaced by Abnormal cells Ex: Smoking - Metaplasia Pathological, Normal cells mutated into Abnormal cells of shape and size. Ex: Epithelial Tissue - Dysplasia Apoptosis, programmed suicide, normal process of cell replacement and development. EX's: Balance between death and regeneration, endometrial sloughing during menstruation. - Physiological Cell Death

1. Mechanical forces
   2. Extreme temperature
   3. Electrical - Physical Agents (that can cause cell injury)
2. Ionizing
3. Ultraviolet
4. Non-ionizing - Radiation (cell injury)
5. Poisonings
6. Drugs - Chemical (cell injury) Biological Agents Nutritional Imbalances - Also causes of cell injury! Ischemia Necrosis Free Radical - Mechanism of Injury new growth" Lacks normal controls and regulation Can originate in one organ Prostate most common in men

Delayed onset Examples: Marfan syndrome and neurofibromatosis - Autosomal Dominant Disorders Neurogenic tumors A defect on chromosome 17 or 22 - Neurofibromatosis subcutaneous lesions, café-au-lait spots (at least 6 at birth), freckles, scoliosis, erosive bone defects, and nervous system tumors - Type 1 Tumors of the acoustic nerve - Type 2 Rare Both members of gene pair are affected Affects both genders One out of four will be affected Two out of four will be carriers Onset early Usually caused be a deficient enzyme Examples: PKU and Tay-Sachs - Autosomal Recessive Disorders Mutation on chromosome 12 leads to an error in converting phenylalanine to tyrosine Appear normal at birth then fails to meet milestones Progressive neurological decline If untreated, can lead to MR Diagnosis- serum phenylalanine at 3 days old Treatment: Avoid high protein foods Limited amounts of starches - PKU (phenylketonuria)

A deficiency or absence of hexosaminidase A Necessary to metabolize certain lipids Lipids accumulate, destroying and demyelinating nerve cells Nerve cell destruction leads to a progressive mental and motor deterioration Most are of Jewish decent - Tay-sachs Appears normal at birth, then the infant begins to miss milestones Progresses to seizures, muscular rigidity, and blindness Usually fatal by 5 years of age Diagnosis: history, physical examination, and low serum and amniotic hexosaminidase A levels No cure Genetic counseling suggested - Tay-Sachs Associated with a single trinucleotide gene sequence on the X chromosome Lack of a protein necessary for neural tube development Manifestations: long face with large mandible, large ears, large testicles, mental retardation, learning disabilities, speech delays, connective tissue disorders, and behavioral issues Diagnosis: history, physical examination, genetic testing Treatment: supportive - Fragile X syndrome small square head, upward slant of the eyes, small low set ears, fat pad on the back of the neck, open mouth with protruding tongue - Trisomy 21 (Down's syndrome) Deletion of all or part of an X No Y chromosome, so female Manifestations: gonadal streaks instead of ovaries, short stature, increased weight, webbing of the neck, small lower jaw, drooping eyelids, small fingernails, and widely spaced nipples Also associated with coarctation of the aorta, vision issues, hearing loss, renal abnormalities, infertility, and increased risk for infections No mental retardation present - Monosomy X (Turner's Syndrome)-