section a pathophysiology Flashcards
(59 cards)
1
Q
virchow
A
- all physiology is cell physiology, all pathophysiology is cell related
2
Q
Genomics
A
- the study of an organisms complete set of genetic information
- includes both genes (coding) and non coding DNA
- genome the complete genetic information of an organism
3
Q
5 stages of inflammatory response
A
- vasodilation and increased blood flow
- increased vascular permeability with inflammatory cell infiltration
- release of bradykinins and prostaglandins
- neutrophils/ macrophages migrate for phagocytes
- systemic features present
- unpregulation of costimulatory molecules
4
Q
nucleotides
A
- A- adenine
- G- guanine
- C- cytosine
- T- thymine
5
Q
autosomal recessive
A
- both parents carrying the same defect in a recessive gene
- appears in males and females
- CF, sickle cells
- 25% affected, 50% carrier, 25% unaffected
6
Q
genetic mutations
A
- occurs when there’s an error in meiosis or mitosis
- can be spontaneous
- exposure to harmful substances
7
Q
autosomal dominant
A
- affected males and females
- appear in each generation
- transmit phenotype to sons and daughters
- huntington’s, familial hypercholesterolanemia
- 50% affected, 50% unaffected (when one parent is affected)
8
Q
dna function
A
- to code for proteins
- not all dna molecules code for proteins
- the functional part is known as a gene
9
Q
meiosis disorders
A
- common, leads to well recognised and severe symptoms
- Chromosomal disorders: abnormal number or structure
- abnormal disorder: Trisomic (e.g. Down’s syndrome) or Monosomic (very rare)
- abnormal structure: Deletion/ Duplication or Inversion/ Translocation
10
Q
chromosomes
A
- contained in cell nucleus
- a cell has pairs of chromosomes (diploid), contain 2 versions of every gene
- 23 homologous chromosomes
- 1 mother, 1 father
- are for particular characteristics
11
Q
cell cycle
A
- process that all cells are from multi cellular organisms
- used to grow and divide
- start-> cell produced
- end -> division, 2 identical cells
- mitosis: growth and division
12
Q
X linked Recessive
A
- more males than females show the disorder
- all daughters of an affected male are carriers
- none kid the sons of an affected male show the disorder or are the carriers
- muscular dystrophy
13
Q
meiosis
A
- gametes join (sperm and egg)= cells divide (through mitosis) and differentiates to create cells with special functions
- cell division for sexually reproducing organisms
- reduces the number of chromosomes in gametes
- human -> cells are diploid (2 sets)
- during fertilisation they must be haploid (single set)
- meiosis, each diploid cell, 2 rounds of division to get 4 haploid daughter cells (gametes)
14
Q
Pericardium
A
- composed of a tough fibrous outer layer of connective tissue and thin inner layer
- The serous pericardium: cardiac tamponade
15
Q
Human Genome
A
normal human body cells (somatic cells) have 46 chromosomes, all containing genes
- The 46 chromosomes presents as 23 pairs
- 22 pairs - autosomes
- 23rd is a sex chromosome
- XY males
- XX females
16
Q
Genetics
A
the study of hereditary
- Study of the function and composition of single genes
- Gene specific sequence of dna that codes for a functional molecule
17
Q
Genes and inheritance
A
chromosomes exist in pairs (except X and Y)
- genes are also present in pairs
- Two chromosomes in a pair each carry a gene for the same characteristic in the same place
18
Q
X linked dominant
A
- affected males pass the disorder to all daughters but to no sons
- Affected heterozygous females with unaffected males pass the condition to half their sons and daughter
19
Q
Epigenetic
A
- influences how our genome is regulated without the DNA code being changed
- Determines how genes are turned on & off (gene expression) and which proteins are produced
20
Q
Mitochondrial inheritance
A
inheritance applied to genes in mitochondrial DNA
- Can appear in every generation of a family
- Can affect both males and females
- Fathers do not pass to their children
21
Q
Stroke volume
A
The amount of blood pumped out during one contraction of the left ventricle
- HT + SV = Cardiac Output
22
Q
Cardiac output
A
- this is the amount of blood the heart pumps through the circulatory system in 60 seconds
- Average adult cardiac output is around 4.7L of blood/ 1 minute
23
Q
Myocardium
A
the middle layer of the heart muscles
- Composed of contrastive tissue
24
Q
barriers of immune system
A
- flow of air or fluid
- natural acid
- natural antibacterial peptides
25
Mitochondrial chromosomes disorders
- Carry genetic material in compact form (no introns)
- High chance of effect
- Mutation in 1 mitochondrial- more mutation due to divisions- mitochondrial disease
- Most are myopathies and neuropathies with maternal pattern of inheritance
26
Immune system cells
- neutrophils: 40-75% of WBC first line against infections
- Eosinophils: 1-6% of WBC against all multicellular parasites e.g. asthma
- Basophils: 0-1% WBC roles in inflammation, parasitic infections and allergic reactions
27
RNA
- Genes are instructions to build a protein
- The DNA that contains genes cannot leave the nucleus
- A copy of the gene has to be made
- The copy is known as messenger RNA
- A type of nucleic acid
28
Hereditary Defect
- Always inherited from the genes acquired from the parent generation
- May be present at birth or develop later on in life
29
Genetic Disorders
- caused in whole or in part by a change in the DNA sequence (away from the normal)
- monogenic disorder: mutation in only one gene
- Multifactorial inheritance disorder: multiple or combination of gene mutation, environmental, damage to chromosome
- Inherited or congenital
30
Difference between mitosis v meiosis
- mitosis: 2 genetically identical cells
- Meiosis: get 4 genetically different cells, haploid , single set chromosomes
31
Germline
- sex cells that pass on genetic information
- Others are somatic cells
32
Mitosis
- Aim: growth & repair
- Produced 2 daughter cells, genetically identical to parent cells
- 4 main stages prophase, metaphase, anaphase, telophase
- Produced 2 identical daughter cells
33
De novo
- of new
- No cell can originate from nothing
- Adapted as a result to external/ environmental influence
34
Endocardium
- the innermost layer of the heart
- Composes the avalves, linear lining of chambers and contains vessels and nerves
35
role of liver in immune system
- further site of antigen presentation
- contains phagocytes and lymphocytes
- filters venous blood from GI tract
- synthesis CRP (acute phase proteins)
36
Cell theory
- everyone organism is made up of cells, every cell comes from a cell
- cells are basic units of life
37
heart rate
- the number of times a heart beats in 60 seconds
38
the heart valves
- pulmonary
- tricuspid
- aortic
- mitral
39
local signs and symptoms for inflammation
- redness
- heat
- swelling
- pain
- loss of function
40
inflammation
- may be acute (mostly) or chronic
- aims to eliminate infection/ noxious agents by production of cellular and molecular mediators
41
congenital defect
- present at birth that may be either inshore or arise as a result of environmental factors
42
Semi conservation
- one half of each molecule is old and the other is new
43
Termination of translation
- as a step codon a release factor reads the triplet and polypeptide synthesis ends
- tRNA releases the polypeptide and is released from the ribosome
- 2 ribosomal subunits seperate from the mRNA
44
polysomes
- several ribosomes can translate a mRNA at the same time, forming a polysome
45
4 types of RNA
- mRNA: messenger
- tRNA: transfer
- rRNA: ribosomal
- snRNA: small nuclear
46
DNA replication
- semi conservation
- when replication is complete the two new strands of DNA formed will be identical to each other
- a new strand is made using each old strand as a template according to base pairing rules
47
Translation
- the actual synthesis of a protein which occurs under direction of mRNA
- mRNA is read and translated into a protein
- occurs in ribosomes
- involves tRNA
48
Transcription
- The synthesis of RNA under the direction of DNA
- A copy of DNA is made when DNA is transcribed -> RNA molecule
- DNA rewritten as a sequence of bases of RNA
- Occurs in nucleus
49
elongation
- DNA polymerase extends in a 5’ to 3’ direction
- Exonuclease removes the RNA primer
- polymerase fills this gap
- ???? joins the two pieces
50
Initiation
- Helicase breaks the bond between the base pairs
- primase lays down as a primer
51
spleen
- another site of antigen presentation to mature lymphocytes
- filters blood removing no longer used components
- stored red blood cells and immature monocytes
52
lymph nodes
- small ‘beans’ along lymphatic vasculature
- filter lymph, a site for antigen presentation(toxin, foreign substance) to one adaptive immune system
- lymph is retuned to the systemic circulation via the thoracic duct at the left subclavian vein
53
thymus gland
- infront of the heart
- largest in childhood
- where lymphocytes mature and are educated before released into the blood
54
immune cells
- produced by bone marrow during haemopoiesis
55
inflammatory mediators
- cytokines
- histamine
- prostaglandins
- bradykinins
- leukotnenes
- platelet activating factors
56
inflammatory response
- started by innate immune cell, pro inflammatory cytokines and complement
- localise and contain infection (4-96hours)
- bridge innate immune response and the specific cellular immune response
57
What do cells have in common?
- cytoplasm- jelly like fluid
- cell membrane- separated the inside of the cell from the environment
- DNa cells genetic material
58
Genes
- A gene is a short section of DNA
- Located on chromosomes. a very long tightly coiled molecule of Dna
- When cells divide, it is essential that genes are copied into new cells
- Genetic material must do the same so should have the same material
59
Systemic features of inflammation
- Fever
- Raised inflammatory markers (CRP & Feritin)
- bute flushes
- sweats
- chills
- rubies
- headache
- nausea
- myalgia
- arthralgia
- fatigue
