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A concise overview of fluid and electrolyte regulation, electrolyte imbalances, genetic information storage, inheritance patterns, and common genetic disorders. It covers the movement of fluids between plasma and interstitial spaces, the physiological and pathophysiological conditions leading to electrolyte alterations, and the clinical findings associated with excesses and deficits of potassium, calcium, magnesium, and phosphate ions. Additionally, it summarizes how genetic information is stored and transmitted, outlining inheritance principles and clinical features of genetic disorders. The document also touches on fluid homeostasis, acid-base balance, and gene mutations, offering a foundational understanding of these critical biological processes. This material is suitable for students in biology, medicine, and related fields, providing a structured review of essential concepts.
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Module 1 Learning Objectives Fluids/Electrolytes and Genetics
prevents them from being absorbed and they are then excreted through feces. Plasma Excess/Deficit of Potassium:
include neuromuscular excitability causing positive Trousseau sign, positive Chvostek sign, paresthesias, muscle twitching, cramping, hyperactive reflexes, carpal spasm, pedal spasm, tetany, laryngospasm, seizures, and cardiac dysrhythmias. Hypocalcemia is caused by anything that decreases calcium intake or absorption, decreases the physiologic availability of free calcium, and increases calcium excretion. Pancreatitis is one example as the fat digestion is impaired by a lack of pancreatic lipase within the intestines causing the free calcium to bind to the undigested fat and being excreted through feces.
Genetic information (DNA) is stored within the nucleus of a cell which is protected within the chromosome by a telomere. DNA is transmitted to progeny when 23 chromosomes are given by each parent during fertilization. Gene expression is regulated through transcription and translation causing differences in phenotypes.
Homeostasis Resting membrane potential: o In general, the inside of a cell is negatively charged. o Things like to move from a high concentration to a low concentration (chemical gradient) and opposites attract, positives will go towards negatives and negatives will stay where they are (electrical gradient) o Potassium leak channels allow for potassium to move in and out of the cell in whichever direction its drawn to, Action potential: o Baseline is negative, then there is a threshold potential, the point (voltage) at which once reached it will fire an action potential where we get an action. Acid/Base balance: o Carbonic Anhydrase: CO2+H2OH2CO3H+ + HCO3- o Tissue goes from left to right: we build up CO2 and convert it to acid and bicarb o Lungs go from right to left: we have acid and bicarb in the blood the we shift that bicarb and combine it in the equation to create CO2. Principles of Molecular Biology and Genetics Central Dogma: DNA(transcription) RNA(Translation) Protein Within the nucleus of the cell, we have DNA which is then transcribed into messenger RNA (mRNA. Within the cytosol is where conversion of mRNA into protein or anything tangible in our system occurs. So, transcription happens in the nucleus, translation occurs in the cytoplasm. Transcription: product of transcription is mRNA, occurs in the nucleus, and requires RNA polymerase Translation: product of translation is a polypeptide chain that eventually becomes a protein, occurs in the ribosomes, uses various reagents to create a polypeptide chain. Both transcription and translation have cytosine, guanin, adenine, and uracil as their nucleotides and need a template. A telomeres job it to protect DNA within a chromosome. Gene: the functional and physical unit of heredity passed from parent of offspring; genes are pieces of DNA, and most genes contain the information for making a specific protein. Mutations of a gene: o Deletion: a removed portion of the DNA ABCDABD o Duplication: adding the same sequence (doubling it) within DNA ABCDABBCD o Inversion: flip around the sequence of the DNA
o Translocation (associated with cancers): the movement of info between chromosomes Such as genetic info exchanged between chromosomes 4 and 20 o Not all mutations result in a change of the phenotype