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One of a number of alternative forms of the same gene or a variation of a gene at a specific location.
allele
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A specific loxation of a gene or DNA sequence on a chromosome.
Locus
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Encompasses the whole collection of an individual's genes.
Genomics
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The instructions for making a protein molecule.
Transcription
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The process that makes proteins from mRNA.
Translation
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Caused by an error in cell division during meiosis resulting in an extra #21 chromosome.
Down Syndrome
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Which type of cells are unable to divide and reproduce?
Well-differentiated neurons of skeletal & cardiac muscles.
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Which cells continue to divide and reproduce? Examples?
- Progenator cells.
- blood, skin, and liver cells
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Which type of cell can be triggered to enter the cell cycle and produce large numbers of progenitor cells when needed?
Undifferentiated stem cells
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Type of stem cell that produces one cell type but retain property of self renewal. Examples?
- unipotent stem cell
- muscle satellite cell, sperm cell
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Stem cell that will only produce a small number of cells. Examples?
- Oligopotent
- RBCs, WBCs, platelets, etc
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Type of stem cell that can produce numerous types of cells. example?
- Pluripotent.
- Embryo - cells from all 3 germ layers
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Specific location of a gene or DNA sequence on a chromosome.
locus
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A list of inherited instructions that may or may not have an observable effect on the organism.
genotype
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How the gene is expressed - what you see.
phenotype
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______ codes for ______.
Genotype; phenotype
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Associated with effects of multiple genes in combination with lifestyle and environmental factors. Examples?
- Multifactorial Inheritance Disorders
- Heart Disease & Diabetes
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How soon after the first indication of Compartment Syndrome can permanent loss of function occur?
After 4-6 hours
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What is the hallmark symptom of Compartment Syndrome?
SEVERE pain that has gotten worse
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What is Compartment Syndrome?
- Too much pressure in too little space
- Compromises the circulation and fxn of the tissues within the space
- fluid acculumalates and impairs circulation
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Most common signs/symptoms of Compartment Syndrome?
Bleeding and edema
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To realign a fracture.
Reduce/reduction
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To stabilize a fracture.
Immobilize
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What are the 5 P's of neurovascular assessment?
- Pain
- Pulse
- Pallor (color)
- Parasthesia (no feeling)
- Paralysis (no movement)
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Where should you take a pulse in relation to an injury?
Distal to the injury
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What is a strain?
A tear or injury to a tendon or muscle.
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What is a sprain?
A tear or injury to a ligament.
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Who is most at risk for Osteoporosis?
Women and sedentary people
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What is Osteoporosis?
Decreased bone mass/density & imbalance of bone formation
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Softening of the bones caused by defective bone mineralization.
Osteomalacia/Rickets
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What is the hallmark sign of Osteomalacia/Rickets?
Bone pain and tenderness
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What causes Osteomalacia/Rickets?
Vitamin D deficiency which lowers the calcium absorption, therefore no calcification of the bones occur (soft bones)
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Osteoporosis is due to a lack of ______ whereas Osteomalacia is due to a lack of _______.
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"Bowing of the legs"
Paget's disease
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What causes Paget's disease?
Unknown.
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Excessive breakdown of bone tissue followed by abnormal bone formation.
Paget's Disease
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Normal bone marrow is replaced by vascular, fibrous, connective tissue that leads to formation of larger, disorganized, & WEAKER bone tissue.
Paget's disease
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Paget's disease most commonly affects these areas of the body.
- Skull,
- femur,
- tibia,
- pelvic bones,
- vertebrae.
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Which bone disease is a mineralization problem?
Osteomalacia/Rickets
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What is most often the cause of Osteomyelitis?
A staphylococcal infection of an open wound
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Acute and chronic inflammation, fever, pain, necrotic bone - these are all s/s of what?
Osteomyelitis
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What is Osteomyelitis?
A blood-borne (endogenous) infection
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38% of bone tumors; located in the metaphyses of long bones; most common type of bone tumor.
Osteosarcoma
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Osteosarcoma mainly affects what age?
Young adults
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Body makes too many bone plasma cells that produce ab that are not needed. The cells collect in bone marrow.
Multiple Myeloma
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First symptoms include bone pain, often in the back or ribs, broken bones, weakness, fatigue, wt loss, or repeated infections.
Multiple Myeloma
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What are some advanced symptoms of Multiple Myeloma?
- nausea
- vomiting
- constipation
- urination problems
- weakness or numbness in legs
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Chronic and frequent disease which includes degeneration and loss of articular cartilage and formation of bone spurs.
Osteoarthritis
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Degenerative Joint Disease.
Osteoarthritis
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Main complaint is dull, achy pain usually at knees or hips.
Osteoarthritis
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"Bone on Bone"
Osteoarthritis
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What do 70-80% of those with Rheumatoid Arthritis have?
an antibody called the Rheumatoid Factor
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What manifestation does RA have that osteoarthritis does NOT have?
warmth. Also, it's usually bilateral and symmetrical.
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Metabolic disorder characterized by elevated uric acid levels in blood. Caused by deposit of uric acid crystals in synovial fluid and joint tissues.
Gout
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Some foods & bev with high levels of purines (things for gout pt to avoid).
- Shellfish
- organ meats (kidney, liver, etc)
- Red meat
- Red wine & beer
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A few symptoms of this are:
tender lymph nodes in neck or armpit
pain in joints w/o swelling or redness
post-exertion malaise >24 hrs
headaches of a new type, pattern or severity
Chronic Fatigue Syndrome
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Originates in bone marrow and occurs after a fracture. Is common in pts with long bone fractures; usually occurs within 48 hrs of injury.
Fat embolism
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S/S include agitation & restlessness, mental status changes, tachycardia/tachypnea & hypotension, sudden dyspnea, petechial rash over upper chest & neck.
Fat embolism
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