Everything Lol Flashcards
1
Q
Clinical manifestations; What is a “sign” and what is a “symptom”
A
Signs - objectively measured
Symptoms - subjective experiences
2
Q
Define disorder
A
Abnormality of function
3
Q
Define syndrome
A
A set of clinical manifestations that occur together in a condition in which thee cause is unknown
4
Q
Define disease
A
Has a well defined cause, clinical manifestations, and a corresponding set of diagnostic and treatment strategies
5
Q
Define aetiology
A
The underlying cause
6
Q
Define epidemiology
A
The study of factors that affect the health of populations
7
Q
Define incidence
A
The number of NEW cases diagnosed per unit of time ( ie per year)
8
Q
Define prevelance
A
The TOTAL number of people who are affected by a disease at a particular time, regardless of whether they have been diagnosed for a short or long time
9
Q
Define morbidity
A
The PROPORTION of the population with the disease (relating the number with the disease to the number without
10
Q
Define co morbidity
A
Presence if another disease/condition in the same pt
11
Q
Define mortality rate
A
Death rate
12
Q
Infants are considered to be those aged …
A
From birth to 1
13
Q
Children are considered to be those aged …
A
One to the onset of puberty
14
Q
Adolescents are considered to be those aged …
A
From the onset of puberty until adulthood
15
Q
Adults are considered to be …
A
When an individual has fully matured
16
Q
Ageing are considered to be those …
A
Adults over the age of 65
17
Q
Define evaluation
A
Combining info from a pts hx, manifestations, laboratory tests and medical imaging allowing medical staff to make a diagnosis
18
Q
4 types of treatment
A
Surgical
Medical
Lifestyle change
Avoiding triggers
19
Q
Define Sagittal plane
A
Divides the body into left and right
20
Q
Define transverse plane
A
Divides body into upper and lower
21
Q
Define frontal plane
A
Divides body into front and back
22
Q
5 causes of cell injury
A
Hypoxia; lack of oxygen occurring due to inadequate delivery (blockage or low oxygen) or insufficient transport (anaemia, cardiovascular disease)
Nutritional imbalances; insufficient or excessive nutrients consumed
Chemical agents; direct toxicity or formation of toxic substances or altered cellular permeability
Physical agents; hypothermic, hypothermic, atmospheric pressure, sunlight, trauma
Genetic causes; inborn errors in metabolism
23
Q
Hypoxia injury can be caused by (2)
A
Ischaemia; deprivation of oxygen from the tissues occurring gradually (atherosclerosis) or suddenly (acute; thrombosis)
anoxia; total lack of oxygen caused by a sudden obstruction (infarction)
24
Q
Describe the Cellular response to hypoxia injury
A
Decrease in ATP, causes failure of sodium-potassium pump and sodium-calcium exchange
Sodium-potassium pump malfunction causes water to be absorbed by the cell leading to cellular swelling
25
Free radical and reactive oxygen species involvement in cellular injury
Electrically uncharged atom or group of atoms having an impaired electron that causes damage via lipid peroxidation causing fats to become rancid, alterations of proteins (by oxidising side chains), alterations of DNA and mitochondrial oxidative stress
26
Describe Alteration of calcium homeostasis as a mechanism of cellular injury (3)
Damages mitochondria; reducing the capacity to produce ATP
Activates destructive enzymes; leading to inappropriate protein digestion and nuclear damage
Breaks down cell membrane and cytoskeleton; leading to loss of protective barrier and altered permeability
27
Define insidious presentations of disease
Proceeding in gradual, subtle way but with very harmful effect
28
Cellular adaptation define atrophy
Shrinkage in cell size, resulting in a decreased organ size
29
Cellular adaptation define hypertrophy
Increase in cell size leading to an increase in organ size
30
Cellular adaptation defineHyperplasia
Increase in the number of cells which can be
Physiological; compensatory (eg liver regeneration) or hormonal ( eg uterine enlargement in pregnancy)
Pathological; usually excessive hormonal stimulation (eg BPH)
31
Cellular adaptation define metaplasia
Reversible replacement of one mature cell type by another (sometimes less differentiated) cell type
Eg replacement of columnar epithelial lining of airways with stratified squamous epithelium due to cigarette smoking
32
Cellular adaptation define dysplasia
Not a true adaptive process
| Abnormal change in size, shape and organisation, which is strongly associated with cancer development
33
Define reversible cellular injury
Stimulus ceases and cell returns to normal state, involves cell swelling and lipid accumulation
34
Define irreversible cellular injury
Stimulus continues and critical point is reached, involving apoptosis and necrosis
35
Irreversible cellular injury - describe apoptosis
Normal Physiological cell death
Programmed cell death which does not induce inflammation
Can be physiological or pathological (not usually, but may be switched on by some abnormal processes such as viruses)
36
irreversible cellular injury - describe necrosis
Can be coagulative, liquefactive, caseous, fatty or gangrenous
Induces inflammation
Is abnormal cell death
Sum of cellular changes after local cell death and the process of cellular autodigestions through karyolysis (nuclear dissolution and chromatin lysis) or pyknosis (clumping and shrinking of the nucleus)
37
Manifestations of cellular injury
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Cellular accumulations (infiltrations)
Water
Lipids and carbohydrates
Glycogen
Proteins
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38
Types of necrosis - coagulative necrosis
Kidneys, heart and adrenal glands
Caused by hypoxia (ischemia)
Protein denaturation
39
Types of necrosis - liquefactive necrosis
Ischaemic injury to nerve cells in the brain
Brain cells have high levels of digestive enzymes, and the brain has small amounts of connective tissue
The cells are digested by their own enzymes, the tissue becomes soft and is walled off from healthy tissue
40
Types of necrosis - caseous necrosis
Tuberculosis pulmonary infection
Combination of coagulative and liquefactive necrosis
Dead cells disintegrate but debris not completely digested by enzymes
Resembles cheese
Organisms survive within the macrophages, macrophages merge and the immune system can't destroy them so instead they are walled off
41
Types of necrosis - fat necrosis
Pancreas and other abdominal organs
| Actions of lipases- break down triglycerides which combine with Ca++, Mg++ and Na+ creating soaps
42
Types of necrosis - gangrenous necrosis
Death of tissue from sever hypoxia injury and bacterial invasion
Can be wet or dry
Dry; skin becomes dry and wrinkles with colour changes to brown and black
Wet gangrene; neutrophils invade site causing liquefactive necrosis, occurring in internal organs and has a foul odour
43
Define somatic death
Death of an entire person
44
Postmortem changes in somatic death
Cessation of breathing and circulation
Algor mortis ( postmortem reduction in body temperature, often used to describe time of death)
Dilated pupils that do not respond to light
Surface of skin becomes pale and yellowish
Rigor mortis ( occurs within 6 hours after death affecting the whole body within 12-14 hours, muscles often stiffen due to breakdown of carbohydrate and depletion of ATP, gradually diminishes, body becomes flaccid at 36-62 hours)
Livor mortis (pooling of blood at the lowest point
45
Describe the cell nucleus
Control centre - DNA is storage space
Contains chromosomes made of DNA (autosomes, sex chromosomes X and Y)
46 chromosomes in somatic cells (except gametes, they have 23)
Chromatin
Chromosomes organise the DNA in his tones which are coiled double helixes
46
Define autosomes
All chromosomes not including sex chromosomes
47
Cell proliferation (2)
Production of gametes; meiosis
| Reproduction of other body cells; mitosis and cytokinesis
48
The cell cycle - interphase
interphase
G1 phase
S phase
G2 phase
Mitotic phase follows
49
The cell cycle - mitosis
Prophase
Metaphase
Anaphase
Telophase
50
Control of cell division - checkpoints, stimulation by hormones
G1/S; G2/M; M
Must be completed before cycle can progress to the next stage
Passage that checkpoints commits the cell to continue through the cell cycle irrespective of nutrient status
Stimulation by hormones eg erythropoietin
51
Control of cell division - failure at checkpoints
Abnormalities are repaired or cell undergoes apoptosis
| Tumour cells overcome these checkpoints
52
Describe DNA
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Store genetic info in the nucleus
Deoxyribose sugar-phosphate backbone
Four nitrogenous bases (complementary base pairs)
- cytosine and thymine (pyrimidines)
- adenine and guanine (purines)
A pairs with T and C pairs with G
Double helix model
Strands uncouple to replicate
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53
Describe RNA
Ribonucleic acid backbone plus four nitrogenous bases
-uracil instead of thymine
-ribose instead of deoxyribose
-single strand
-mRNA, tRNA, rRNA
Carries copies of genetic information to the cytoplasm where it is read and directs cell activities
54
DNA replication
Occurs in s phase
Hydrogen bonds break to form a single strand
Unpaired bases attract free nucleotides to forms new complementary strand - complementary base pairing
55
Protein production
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messenger RNA(mRNA) copy is made of the gene on the DNA template (transcription)
mRNA moves out of the nucleus and into the cytoplasm through a pore in the nuclear membrane
mRNA attaches to ribosomes, which assemble amino acids into a protein ( translation)
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56
Genes
Small discrete sections of a chromosome
Generally code for a single protein
Trait (genetic characteristic or phenotype)
Occurs on one of the strands of the DNA molecule not both, but different genes can occur on either strand
57
Genes - gene expression
manifestation of a heritable trait in an individual carrying the gene
58
Genes - alleles
Alternative forms of a gene
| Eg ABO blood groups
59
Genes - mutations
Changes in DNA base sequencing
Sometimes mutations won't effect the protein being produced due the redundancy of the genetic code - different condons can still equate to the same amino acid
If the wrong amino acid is placed in the protein the gene mutation will occur
Eg haemoglobin s - alternative haemoglobin which produces sickle cell anaemia
60
Describe genotype
'What they have'
The genetic makeup of an organism
What controls the genetic makeup
Mum and dad's gene at the same locus
61
Describe phenotype
'What they demonstrate'
The observable, detectable or outward appearance of the genetics of an organism
Eg a person with the A blood type could be iAiA or iAiO. A is the phenotype; iAiA or iAiO is the genotype
62
Epigenetics
The study of cellular and physiological phenotypic trait variations that result from external or environmental factors that switch genes on and off and affect how cells express genes
DNA methylation; histone modification
Eg cellular differentiation; activation of some genes and inhibition of expressions of others
63
Genetics and the environment
Disease alleles are mutant forms of a gene that produce abnormal proteins that either fail to function properly or at all
Genetic variability controls responses to lifestyle and environmental risk factors
Relationship between genotype, environment and phenotype
64
Homozygous
Two copies of the same allele
65
Heterozygous
Two different alleles
66
Dominance and recessiveness
If two alleles are found together, the observable allele is dominant, and the other one whose affects are hidden is recessive
Dominant allele represented by capital letter; recessive by lower case letter
Alleles can be codominant - both will be expressed
67
Autosomal traits
Caused by genes on autosomes (non sex chromosomes)
68
X-linked traits
Caused by genes on the X chromosome
Gender imbalance - girls have 2 X chromosomes and boys have one X one Y
Males express abnormal X chromosome diseases
69
Codominence
Each allele provides a slightly different protein
Heterozygous individuals express both forms
Eg ABO blood groups
70
ABO blood groups
a gene produces an enzyme which converts H antigen into A antigen
Alleles. Surface antigen. Blood group
OO. None. O
AA or AO. A. A
BB or BO. B. B
AB. A and B. AB
71
Newborn screening - Guthrie test
Screens for > 30 inherited disorders
- initially phenylketonuria (PKU)
- now expanded; sickle cell anaemia, galactosaemia, congenital hypothyroidism
Aim is early treatment to prevent disability
72
Studying populations- risk factors
Personal characteristics; age, sex, blood pressure
Behavioural characteristics; smoking, exercise
External conditions; work environmental, home address
73
Studying families
Pedigrees
Human genome 3 billion nucleotides
Genetic disease- one nucleotide change
74
Genetic disorders - chromosomal
Wrong number of chromosomes
| Altered chromosomes; large segments missing, duplications, otherwise altered
75
Genetic disorders - single gene disorders
One or more mutations of a single gene
76
Genetic disorders - multi factorial disorders
Combinations of mutations in multiple genes and possibly environmental factors
77
Genetic disorders - mitochondrial disorders
Alterations in mitochondrial genome
| Mitochondria replicate independently of the mother cell - comes from the mother
78
Genetic disorders - disjunction
Normal separation of chromosomes during cell division
79
Genetic disorders - non-disjunction
Failure of chromosome pairs to separate normally during meiosis
80
Autosomal non-disjunction - trisomy
Down syndrome; trisomy 21
- 1:700 live births
- Intellectual disability, facial characteristics, heart malformations
Trisomy 13, trisomy 18 both have very short life span
More common as the mother ages
81
Sex chromosome non-disjunction; Turners syndrome
Females with only one X chromosome
| Characteristics; infertile, treated with oestrogen therapy
82
Inherited disorders - carrier
A carrier is someone who has a disease gene but is phenotypically normal
For a person to demonstrate a recessive disease, the pair of recessive genes must be inherited
Ex. SS - normal
Ss - sickle cell carrier
ss - demonstrates sickle cell disease
83
Inherited disorders - autosomal dominant disorders
Abnormal allele is dominant, normal allele is recessive, and the genes exist on a pair of autosomes
Ex. Marfans syndrome- disease of collagen
84
Inherited disorders - autosomal recessive disorders
Abnormal allele is recessive and a person must be homozygous for the abnormal trait to express the disease
Dominant allele codes for normal protein, recessive allele codes for dysfunctional protein
Heterozygotes are carriers
Eg. Cystic fibrosis
85
Consanguinity
Mating of two related individuals
Dramatically increases the reoccurrence risk of recessive disorder
Each human carries approx. 30 faulty alleles
86
Inherited disorders: sex linked disorders
The Y chromosome contains only a few dozen genes, so most sex linked traits are located on the X chromosome and are said to be xlinked
X linked disorders are usually expressed by males because females have another X chromosome to mask the abnormal gene
87
Xlinked recessive disorders
Most xlinked disorders are recessive
Affected males cannot transmit the genes to sones, but they can to all daughters
Sons of female carriers have a 50% risk of being affected
Ex. Haemophilia
88
4 causes of congenital abnormalities
Genetic mutations
Deletion or damage to chromosomes
Changes to the intrauterine environment
Environmental factors - teratogens
89
3 congenital abnormalities
Neural tube defects- Folic acid
Foetal alcohol syndrome- requires both genetic predisposition and environmental factors
Phenylketonuria - produces an abnormal protein which causes a buildup of poisonous substance in the blood which can cause mental abnormalities and brain damage, however effects can be prevented through diet
90
Multi factorial inheritance - polygenic
Variation in traits caused by the effects of multiple genes
| Ex. Height, weight, IQ
91
Multi factorial inheritance - multi factorial trait
Verbatim in traits causes by genetic and environmental or lifestyle factors
92
Multi factorial inheritance - Heritability
Scale from 0-1 based on relative contribution of genetics to development of trait
93
Conditions arising from genetic and environmental factors
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Neural tube defects
Foetal alcohol syndrome
Cardiovascular disease- coronary heart disease, familiar hypercholesterolaemia, hypertension
Obesity
Metabolic syndrome
Diabetes Mellitus
Cancer
Mental illness
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94
Define pain
Unpleasant sensory and emotional experience associated with actual or potential tissue damage or described in terms of such damage
95
Pain systems - Sensory/discriminative system
Ability it locate a painful stimulus and describe both it's intensity and quality- controlled by Afferent nerve fibres, spinal cord, brain stem and higher brain centres
96
Pain systems - motivational/affective system
The changes in mental state and behaviour that are part of the emotional component of pain. These are controlled through the interaction of the reticular activating system, the limbic system and the brainstem
97
Types of pain - noticeptive pain
External damage - common, caused by trauma, mild, short time course
Internal damage - less common, more severe, caused by severe trauma, associated with disease, eg. Cancer, arthritis, longer duration
98
Types of pain - neuropathic
Injury or disease of the nervous system - less common that noticeptive pain, severe, may have long duration
99
Types of pain - psychogenic
Pain in the absence of any physical explanation. Pain is the result of a psychological disorder
100
High threshold mechanoreceptors
Detect sharp pain
Have small-diameter myelinated axons APs travel quickly to spinal cord
Activated by high intensity mechanical stimulation
Unresponsive to low- threshold stimuli, painful thermal or chemical stimulus
101
Poly modal nociceptors
Small diameter axons but no myelin sheath
APs travel more slowly
Detect burning pain that follows mechanical injury of the skin
Respond to multiple modalities of high intensity stimuli. Respond to high-threshold mechanical stimuli, high temperature and chemicals
Musculoskeletal and visceral nociceptors also exist - found in deeper tissues, unmyelinated axons, slow conduction. Response to high temps so more like poly modal
102
Physiology of pain- spinothalamic tract neurons
2nd order neurons receive info from nociceptors and relay it to the thalamus. Two distinct sites in the thalamus that receives info - posterolateral and medial
103
Physiology if pain - thalamocortical neurons
3rd order neurons. Relay info from the thalamus to the cortex
Neurons with cell bodies in the posterolateral region are activated by high intensity stimulation of the small regions in the periphery - relay info to the insula
Neurons I. The medial thalamus are activated by painful stimulation of the large areas eg a leg. Relay info to the anterior cingulate cortex of the frontal lobe
104
Define pathophysiology
The study of changes in body function that result from a disease of disorder
