Exam 1 Flashcards
1
Q
Euploid Cells
A
Cells with a multiple of the normal # of chromosomes.
2
Q
Haploid cells
A
Euploid cells- Gametes- Sperm/Egg-23 chromosomes
3
Q
Diploid Cells
A
Euploid cells- normal body cells- 46 chromosomes
4
Q
Aneuploid Cells
A
A cell that doesn’t contain a multiple of 23 chromosomes. Includes trisomy/monosomy
5
Q
Down’s Syndrome
A
Trisomy of Chromosome 21
1:800-3 copies of 21st chromosome.
Risks: maturity of mother
6
Q
Trisomy
A
A cell containing three copies of one chromosome
7
Q
Nondisjunction
A
When chromosomes don’t split correctly
8
Q
Locus
A
the position of a gene or mutation on a chromosome
9
Q
Turner’s Syndrome
A
Monosomy of X chromosome
Occurs in females.
10
Q
Klienfelter Syndrome
A
Duplicates X chromosomes along with one Y
chromosome
Female characteristics on a male
11
Q
3 Modes of inheritance
A
- Autosomal dominant
- Autosomal recessive
- X-linked recessive
12
Q
Autosomal dominant inheritance
A
- Both mother and father exhibit the trait and are equally likely to transmit
- No generations are skipped
- Affected heterozygus individuals transmit the trait to approx. 50% of offspring
Example: Huntington’s Disease
13
Q
Autosomal recessive
A
- Both sexes affected in equal proportions
- Diseases seen in siblings, but not parents
- Aprox 25% offspring affected
Example: cystic fibrosis
14
Q
X-linked recessive
A
- Trait seen much more in males
- Never transmitted from father to son
- Can be transmitted through many carrier females
- Affected father —– all daughters affected
Example: muscular dystrophy
15
Q
Recurrance Risk
A
The probability an individual will develop a genetic disease (Autosomal dominant inheritance: 50%/Autosomal recessive 25%)
16
Q
Penetrance
A
Percentage of individuals with a specific genotype who also exhibit the expected phenotype.
17
Q
Incomplete penetrance
A
Individuals with the disease causing genotype may not exhibit the disease. —- carriers
18
Q
Expressivity
A
Extent of variation in phenotype associated with a particular genotype
19
Q
Phenotype
A
Outward appearance of an individual—result of both genotype and environment
20
Q
Genotype
A
Composition of genes at a given locus
21
Q
Alleles
A
Different forms of a gene: homozygus (AA or aa) or heterozygus (Aa)
22
Q
Expressivity
A
The extent of variation in phenotype associated with a particular genotype
23
Q
Multifactorial Inheritance
A
When environmental factors influence the expression of a trait
24
Q
Single gene trait
A
Traits caused by a single gene
25
Polymorphic
A locus that has two or more alleles that each occur with a significant frequency in a population
26
Sex-limited traits
Can only occur in one sex.
Example: uterine/testicular cancer
27
Sex-influenced trait
Occurs more often in one sex over the other.
Example: male pattern baldness
28
Polygenic inheritance
Traits resulting from several genes acting together
29
Epigenetics
Same gene sequence cause different phenotypes due to chemical modification, which alters expression of genes
30
Genomic imprinting
One parent inactivattes the gene during transmission to offspring---during fertilization
31
Threshold of liability
Stacking risk factors to reach a point where you definitely have the disease.
Example: diabetes---Eventually this person gets diabetes
32
Atrophy
Decrease/shrinkage in cellular size.
Most common in skeletal muscle, the heart, secondary sex organs, and the brain.
33
Physiologic (adaptive) cell adaptations
Normal or natural adaptations
34
Pathogenic cell adaptations
Result of a problem
35
Physiologic atrophy
Shrinkage of the thymus
36
Pathogenic atrophy
Occurs from decreased:
- workload
- use
- blood supply
- nutrition
- hormonal stimulation
- nervous stimulation
37
Hypertrophy
Increase in size of cells---> size of affected organ
Particularly in heart and kidneys
38
Hypertrophy is triggered by
```
-Mechanical signals (stretch)
Trophic signals (growth factors, hormones, vasoactive agents)
```
39
Hyperplasia
Increased # of cells resulting from an increased rate of cell division. (epidermis/liver)
40
Hyperpasia occurs when:
- Cells can synthesize DNA
| - Cells can divide
41
Dysplasia
Abnormal change in size, shape, and organization of mature cells. Found adjacent to cancer, but doesn't necessarily mean the pt has cancer.
42
Metaplasia
Reversible replacement of one mature cell type by another, less differentiated cell. Loss of specialized function due to the cell's environment.
43
Cellular injury
Most diseases begin with cell injury. (reversible/irreversible injury)
44
Hypoxia
partial depletion of O2
45
Hypoxia causes (5)
- Reduced amount of O2 in air
- Loss of hemoglobin/decreased efficiency of hemoglobin (anemia)
- Under production of RBC
- Disease of cardio/respiratory system
- Poisoning of oxidating enzymes in cells
- Ischemia
46
Cellular responses to hypoxia
ATP decreases>>>failure of sodium-potassium pump and sodium-calcium exchange draws water into cell with high Na concentration>>>swelling
47
Reperfusion injury
Reintroduction of O2 to oxygen startved cells causes oxygen starved cells causes oxygen intermediates (radicals) to enter the cell and cause cell damage or cell death
48
Ischemia
Most common cause of hypoxia. Reduced blood supply. Caused by narrowing of arteries/decreased circulation due to blood clots
49
Anoxia
total lack of O2
50
Oxidative stress
Injury induced by free radicals, especially by reactive oxygen species (ROS)
51
Free radical
electrically uncharged atom or group of atoms with an unpaired electron: unstable atoms-bond strongly>leads to chain reactions
52
Free radicals damage cells by (4)
- antioxidants neutrilize lipid peroxidation-destruction of polyunsaturated lipids
- alteration of protiens
- alteration of DNA (fragmentation)
- Mitochondrial damage
53
Chemical injury
toxic, mutagenic, and carcenogenic materials
54
Cellular injury mechanisms
- Hypoxic
- Free radicals/reactive oxygen species
- Chemical injury
- unintentional and intentional injury
- Infectious
- Immunologic/Inflammatory injury
55
Cellular damage from lead
Harms unborn fetuses/children
Affects:
- nervous system
- Production of blood cells (hematologic)
- kidneys
Effects:
- High calcium concentrations
- Anemia
- Convulsions/delerium
- Wrist/finger/foot paralysis
- Glucose in urine
- GI problems
56
Cellular damage from Carbon monoxide
Interferes with cellular respiration. Causes O2 deprivation (hypoxic injury)
Effects:
- Headache
- Giddiness
- tennitus
- nausea
- weakness
- vomiting
57
Cellular damage from Alcohol
Affects nutritional status & deficiencies. Acetaldehyde is toxic
Effects:
- liver disease
- heart disease/hypertension
- CNS
58
Asphyzial injuries
Caused by a failure of cells to receive or use oxygen. (ie. strangulation/suffocation/drowning/chemical suffocation like CO)
cells react like hypoxia
59
Blunt force injuries
Trauma to the body resulting in tearing, shearing, or crushing of tissues
- contusions
- hematoma
- abrasion
- laceration
- fractures
60
Hematoma
collection of blood in soft tissue
61
Contusion
Typical bruise
62
Abrasion
Skinning skin
63
Laceration
ripping/tearing of skin
64
Fractures
broken bones
65
Sharp injuries
- incised
- stab
- puncture
- chopping
66
Incised
Longer than deep wound
67
Infectuous injury
Disease producing potential depends on:
- ability to invade and destroy
- produce toxins
- hypersensitivity reactions
68
Immunologic and inflammatory injury
Membranes injured by direct contact to chemicals of immune response
69
Manifestations of cellular injury:Accumulations (7)
Accumulation of
- water
- lipids and carbs
- glycogen
- protiens
- Pigment changes
- electrolytes
- Urate
70
Water accumulation
Due to ATP loss (hypoxia)
Cellular swelling due to solute irregularity. Reversible.
71
Lipid an carbohydrate accumulation
Mostly in spleen, liver, and CNS.
Narrows arteries
72
Glycogen accumulation
Results in excessive vacuolation of cytoplasm
73
Protein accumulation
Primarily in renal tubules and B-lymphocytes
74
Proteinuria
protein accumulation in relan tubules
75
Multiple myeloma
Protein accumulation in B-lymphocytes
76
Pigment accumulation
- melanin
- hematoproteins cause bruising
- Biliruben in liver causes yellowing from jaundice
77
Calcium accumulation
Accumulates in injured and dead cells. Clusters and hardens.
78
Dystrophic calcification
Injured/dead/dying tissue
79
Metastatic calcification
Clusters in normal/undamaged tissue from high calcium levels
80
Urate accumulation
Causes gout
81
Systemic manifestations of cellular injury
- Fatigue
- Loss of well being
- Altered appetite
- fever
- increased heart rate
- increased leukocytes (WBC)
- pain
- presence of cellular enzymes
82
Necrosis
Death of a group of cells.
Main outcome to several cellular injuries. Can be programmed.
83
Apoptosis
Death of a single cell
Programmed cell death. Active process.
84
Coagulative necrosis
Occurs in kidney, heart, and adrenal gland.
Caused by hypoxia.
Gellies
85
Liquefactive necrosis
Occurs in the brain. Injury to neurons/glial cells in the brain.
Tissue becomes soft and liquefies, forming cysts
86
Caseous necrosis
Combination of coagulative and liquefactive necrosis. Tissue soft and granular.
Teburculosis
87
Fat necrosis
Occurs in breasts, pancreas, abdominal structures
Free fatty acids combine with calcium, magnesium, and sodium forming soaps. Lipases dissolve fats.
White/opaque
88
Gangrenous necrosis
hypoxic injury>>>death of tissue
89
Algor mortis
Drop in body temp
90
Livor mortis
Skin discoloration
91
Rigor mortis
Stiff muscles
92
Putrefaction: postmortem autolysis
Enzymes-lytic dissolution
93
Hydrostatic pressure
Pushes water
94
Osmotic pressure
Pulls water in
95
Capillary hydrostatic pressure
Outward movement of water from the capillary to the interstitial space. ie soaker hoses
96
Capillary oncotic pressure
Osmotically attracts water from the interstitial fluid
97
Interstitial hydrostatic
inward movement from the interstitial space to the capillary
98
Interstitial oncotic
osmotically attracts water from the capillary into interstitial fluid
99
Edema
Swelling. Accumulation of fluid in the interstitial space
100
Mechanisms of edema
- increased capillary hydrostatic pressure
- increased capillary membrane permeability
- decreased capillary oncotic pressure
- lymphatic channel obstrucion (lymphedema)
101
Causes of increased capillary hydrostatic pressure
- Venous obstruction
| - Salt/water retention (heart failure, renal failure, cirrhosis of the liver, pregnancy)
102
Causes in decreased capillary oncotic pressure
Plasma protiens lost in blood-burns, underproduction of albumin, liver disease
103
Causes of increased membrane permeability
- Inflammation/immune response
- allergic reations
proteins escape
104
Causes of lymphatic channel obstruction
- removal of lymph nodes
| - tumors
105
lymphedema
when lymphatic channels are blocked/removed proteins and fluid accumulate in interstitial space
106
Localized edema
Surrounding a cut/burn/sprain
107
Generalized edempa
-dependet edema:a fluid accumulation in the tissues that is influenced by gravity. It is usually greater in the lower part of the body than in the part above the level of the heart.
108
Mechanism for retaining sodium
1. Blood pressure drops
2. Renin released by juxtaglomerular
3. Renin stimulates angiotensin I
4. ACE converts angiotension I to angiotensin II in pulmonary vessels
5. Angiotensin II stimilates secretion of aldosterone/causes vasoconstriction
6. Aldosterone promotes sodium and water resorption and excretion of potassium, increasing blood volume/blood pressure
109
Mechanism to excreting excess sodium
Naturitic peptides released at high blood pressure-Cause vasodialation and decreases blood pressure.
110
Water balance regulation
regulated by secretion of ADH in response to high plasma osmolality or low circulating blood volume
111
Low water/high sodium
Causes:
- thirst
- release of Antidiuretic hormone (ADH)
112
Hypertonic solution
High sodium in interstitial space
Cells shrink
113
Hypotonic solution
Low sodium in interstitial space
cells swell
114
Causes of isotonic fluid loss
hypovolemia
- hemorrhage
- severe wound drainage
- excessive sweating
- inadequate fluid intake
- skin dryness
- increased urine output
115
Causes of isotonic fluid excess
hypervolemia
- Increased aldosterone
- excessive iV administration
- effects of drugs that cause reabsorption of sodium/water
116
Manifestations of isotonic fluid loss
- Rapid heart rate
- Flattened neck veins
- Normal/decreased blood pressure
- weight loss
- dryness
- decreased urine output
117
Manifestations of isotonic fluid excess
- Neck veins distend
- Blood pressure increases
- edema formation
118
Hypertonic water deficit
Dehydration
- headache
- thirst
- dry skin/mucus membranes
- elevated temp
- weight loss
- decreased urine output
- more concentrated urine
119
Hypotonic water excess
Overhydration (nearly impossible)
- cerebral edema
- confusion
- convulsions
- weakness
- nausea
- headache
- weight gain
120
Normal range of Calcium
8.5mg/dl-10.5mg/dl
121
Normal range of Phosphate
2.0 mg/dl-4.7mg/dl
122
Normal range of Magnesium
1.5mEq/L-3.0mEq/L
123
Normal range of Sodium
135mEq/L-145mEq/L
124
Normal range of Potassium
3.5mEq/L-5.5mEq/L
125
Role of Potassium in the body
"Cardiac"
- Normal cardiac rhythems
- Nerve impulses
- Electrical neutrality
- skeletal smooth muscle contraction
126
Role of Sodium in the body
"neurologic"
- Regulates osmotic forces, thus water
- Axon action potentials
- Acid-base balences
- Membrane transport
- cellular chemical reactions
127
Role of Calcium in the body
"musculoskeletal"
- Fundemental metabolic practices
- structure of bone and teeth
- blood clotting
- contraction of muscles
128
Role of Phosphate in the body
- Activates B-complex vitamins
- Forms/activates ATP
- Acid-base balance
- Calcium homeostasis
129
Role of Magnesium in the body
- Smooth muscle function
- Neuromuscular excitability
- blood coagulation
- ATP formation
- Carbohydrate metabolism
130
Innate immunity
- Natural barriers (physical, mechanical, biochemical)
- Inflammation
- In place at birth
131
Adaptive immunity
- Aquired
- Specific
- Slower
- Uses "memory"
132
Defense mechanisms-3 lines of defense
1-Physical and biochemical barriers/normal flora
2-Innate immunity in response to tissue injury or infection (inflammation)
3-Adaptive immunity
133
Inflammation benefits (4)
- prevents infection and further damage
- limits and controls inflammatory process-prevents spread to healthy tissue
- Elicits specific response from adaptive immune system
- Prepares area for healing
134
Compliment system
destroys pathogens via:
- obsinias
- chemotactic factors
- anaphylaxtoxins
135
Clotting system
Forms blood clots that:
- plug damaged vessels
- stop bleeding
- stop WBC to help affected area
- Form framework for healing
136
Kinin system
Bradykinin is final product. Functions:
- dialation of blood vessels (like histamine)
- Induces pain
- Smooth muscle cell contraction
- Increased membrane permeability (like histamine)
137
Characteristics of inflammation
- Occurs in tissues with blood supply
- Activated rapidly
- Depends on activity of both cellular and chemical components
- Nonspecific: occurs same way no matter what type of stimulus
- Acute vs. Chronic
138
Acute inflammation
```
Self limiting
8-10 days
-pain
-redness
-exudate
-swelling
-heat
-leukocytes value over 11k/mL
-Left shift
```
139
Chronic inflammation
over 2 weeks-months
- pus formation
- incomplete healing
- lyphocytes and macrophages at site trying to clean site for healing
- granulomas-walled off infection
140
Granulomer formation
Contains infection's remains so it is walled off from the functioning body.
Tuberculosis
141
Leukocytes
WBC
- Lymphocytes
- Monocytes>>>Macrophages
- Granulocytes:
- Neutrophil
- Eosinophil
- Basophil
142
Mast cells
Release histamine
143
Histamine
- Causes vasodialation (swelling/heat/redness)
- Increases capillary membrane permeability
- Begins synthesis of other mediators of inflammation
144
Neutrophils
Predominant phagocytes in early inflammation. 6-12 hours after injury
-short lived/incapable of division
145
Functions of neutrophils
- removal of debris/dead cells in sterile locations (pus)
| - destruction of bacteria in non sterile locations
146
Left shift
More immature leukocytes synthesized to combat infection
147
erythema
redness
148
Types of exudate
- serous
- Fibrinogen
- Purulent
- Hemorrhagic
149
Serous exudate
- Watery
- Few leukocytes/plasma proteins
- Fluid in blister
150
Fibrinogen exudate
- Thick and clotted
| - Mucus in lungs with pneumonia
151
Purulent exudate
- Walled off lesions (abcess/pus)
- Many leukocytes
- Chronic inflammation
152
Platelets
Activated to:
- Stop bleeding
- Degranulation, releasing mediators with histamine-like effects
- Would healing
153
Basophils
Responsible for allergic reactions/antigen response
Releases histamine/heparin
154
Heparin
Anticoagulent=more WBC to the area
155
Monocytes
Phagocytes. Longer lived than neutrophils. Antibody response via Tcells. Become macrophages
156
Macrophages
Engulfs/digests cellular debris
- Enter site after 24 hours to gradually replace neutrophils
- Orchestrate wound healing by cleaning up area
157
Eosinophils
Mildly phagocytic.
- Defense against parasites
- Regulate mast cell mediators (contains inflammation-histamin-ase)
158
Cytokines
Variety of molecules that affect other cells: pro-inflammatory/noninflammatory
159
Opsonins
Coats bacteria so WBC can ingest
160
Chemotactic factors
Attract phagocytic cells to site
161
Anaphylactoxins
Induce rapid degranulation of mast cells, release histamine
162
Primary intention in wound healing
Resolution: wounds that heal and are functional again
163
Secondary intention of wound healing
Repair: Doing the best you can to get the body back to normal. Loss of function.
164
Phases of wound healing (3)
1-Inflammation: 1-2 days(neutrophils, macrophages, platelets)
2-Proliferation & New tissue formation: 3-4 days (red/pink tissue: granulation tissue)
3- Remodeling and maturation: weeks-years. scar formation and cellular differentiation.
165
Ishemia and wound healing
lack of O2 leads to infection
166
Excessive bleeding and wound healing
Large clots means more space to fill
167
Excessive fibrin deposits
Leads to adhesions: thick bands of fibrin that binds structures together (organs)
168
Diabetes
Prolongs wound healing: hyperglycemia suppresses macrophages
169
Wound infection
pathogens delay wound healing
170
Inadequate nutrition
cells need adequate nutrition to heal
171
Medications
Anticancer agents, NSAIDs, Steroids delay wound healing
172
Obesity
Adipose tissue hard to suture
173
Red flags for bad wound healing
- pain
- redness after healthy looking granulation tissue
- excessive swelling
- purulent exudate
174
Dehiscence
Wound pulls apart at suture line
175
Impared contraction
When contraction is excessive, joints are immobilized
