sem 2 exam Flashcards

(288 cards)

1
Q

how do scientists investigate

A

literature review: reviewing past discoveries

observation: information gathered using senses or instruments that enhance senses
classifying: placing things in groups based on similarities of characteristics
experimentation: designed to support/disprove a hypothesis

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2
Q

steps to scientific method

A
  1. recognise problem and make question
  2. collect information regarding problem
  3. make hypothesis
  4. Test hypothesis using experiment
  5. collect data
  6. draw conclusion on whether hypothesis was proved or not

if disproved, make a new hypothesis

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3
Q

ethical considerations

A
  1. voluntary participation: no pressure
  2. informed consent: fully informed about procedure (risk)
  3. no risk of harm: risk minimised
  4. confidentiality: participant identity not revealed
  5. anonymity: stronger than confidentiality, participants anonymous even to researcher
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4
Q

objectivity

A

scientists shouldn’t let thoughts/feelings affect interpretation or recording of results

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5
Q

cell membrane

brief

A

surrounds cell, forms outer boundary of cell
separates from neighbouring cells and external environment
made of double layer of lipids (phospholipid bilayer)
determines what gets in and out

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6
Q

cytoplasm

A

thick fluid within cell membrane
all structures suspended in it
cytosol is liquid part (75-90% water with complex dissolves substances) proteins and fat don’t dissolve so they are suspended in cytosol

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7
Q

nucleus

A

contains genetic material (DNA)
separated from cytoplasm by nuclear membrane, membrane has has nuclear pores so large molecules can pass
double membrane separated by space
nucleolus composed of RNA (manufacture of proteins)
DNA and nucleolus suspended in jelly-like nucleoplasm
largest organelle

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8
Q

Golgi body

A

flattened membrane bags stacked on top of each other
modify proteins and package them in vesicles for secretions from the cell
vesicles pinched off from edges of membranes

proteins produced at ribosome pass through channels in ER to golgi body
edges of Golgi body membrane small bubbles of liquid containing protiens are formed. bubbles surrounded by membrane (called vesicles)

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9
Q

ribosomes

A

small spherical organelles
where amino acids join to make proteins
can be free in cytoplasm or attached to membranes within cell (rough ER)

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10
Q

centrioles

A

pair of cylindrical structures usually located near the nucleus
important for reproduction of the cell

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11
Q

lysosomes

A

small spheres bounded by membrane, that contain digestive enzymes able to break down proteins, lipids, nucleic acids, some carbohydrates and large molecules
break down materials that are taken into the cell or breakdown worn out organelles
made by Golgi body

particles/liquids enter cell as vesicles formed in cytoplasm: then lysosomes join with the vesicles and digestive enzymes that contain breakdown the material inside the vesicle. they can digest old organelles in the same way.

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12
Q

mitochondria

A

spherical elongated structure
double membrane
1. outer smooth surrounding mitochondrion
2. inner folded toward centre of mitochondrion
release energy for cell through cellular respiration

folded membrane increases surface area on which chemical reactions can occur

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13
Q

Endoplasmic reticulum

A

pairs of parallel membranes extending through cytoplasm
connects cell membrane and nuclear membrane
surface on which chemical reactions can occur
storage and transport
rough have ribosome attached
smooth: no ribosomes, lipid synthesis

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14
Q

cytoskeleton

A

framework of protein fibres that give a cell its shape and assists cell movement
microtubules: rods that keep organelles in place/move them around cell. not permanent (broken/built as needed)

microfilaments: move materials around cytoplasm/whole cell

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15
Q

inclusions

A

not part of cell structure

found in cytoplasm

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16
Q

cilia/flagella

A

on the surface of the cell. Tiny hairs called cilia, if it is longer and fewer it is called flagella
they move mucus and trapped particles (cilia in windpipe)
flagella in sperm cell helps it swim

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17
Q

why are cells small

A

there is a limit to how big a cell can be.
A small cell will have a larger surface area to volume ratio then a large cell.

cells have to be microscopic to function effectively.
A large cell could not support itself because it would not have enough surface to absorb the nutrients required, and remove the wastes produced by its large volume

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18
Q

homeostasis

A

The maintenance of a constant internal environment of cells despite fluctuations in external environment
body systems work together to ensure a constant body temperature, correct level of molecules or ions maintained, fluid levels and body are correct

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19
Q

cell membrane function

A
  1. it is a physical barrier: protect ourselves and separate cells cytoplasm from the extra cellular fluid. this is important because the composition of the cytoplasm and the extracellular fluid are very different
  2. regulates passage of materials: what enters and leaves, controls the movement of materials into and out of the cell. Achieves this through its semipermeable membrane
  3. sensitivity: protein receptors in membrane are sensitive to certain or particular molecules around it for example hormones. The cell membrane is the first part of the sale affected by any changes in the extracellular fluid
  4. support: inside part of membrane has microfilament’s attached, which is part of the cytoskeleton. there are also connections between the membranes of adjacent cells that give support to the whole tissue of which the cells are apart
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20
Q

cell membrane structure

A

membrane is the phospholipid bilayer (2 layers), The main building blocks are phospholipids.
phospholid= lipid molecules with phosphate group
1. hydrophilic head made of an alcohol and glycerol group
2. hydrophobic tail made of chains of fatty acids
3. glycerol backbone
phospholipids can move sideways and allow water and other nonpolar molecules to pass through into or out of the cell
proteins and other molecules are in bedded in the membrane, it is called the fluid mosaic model.
fluid= proteins/molecules are constantly changing positions
mosaic=composed of many different types of molecules
A variety of proteins and cholesterol molecules are embedded in the bilayer some past through the membrane others are only on the surface. Cholesterol makes the membrane more fluid.

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21
Q

membrane proteins

A
  1. channel proteins: form a central pole, allow small ions, water, and other small molecules to pass through by simple diffusion
  2. receptor proteins: receive information to provide a response (hormone, insulin)
  3. Carrier protein: are specific, allow certain materials to bind to it, For example only glucose, amino acids. allows facilitated diffusion for example glucose and active transport (specific membrane pumps)
  4. cell identity markers: identifies the sale as self to prevent attack by the bodies immune system. They have carbohydrate parts attached to it to help cells in recognising each other and certain molecules
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22
Q

diffusion

A

passive process from random movement
spreading out of particles til evenly distributed
*more collision in HC areas
moves from area of high concentration to low
some molecules move against because it is random
o2 and co2 diffuse through membrane
*alcohols and steroid (fat soluble molecules) diffuse through lipids in membrane

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23
Q

osmosis

A

diffusion of water across a differentially permeable membrane from areas of high concentration to low

increase concentration of solute, increased osmotic pressure

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24
Q

carrier proteins

A

specific: they will only buy to a particular molecule. for example the carrier that transports glucose can not transport any other molecules
saturated: once all the available carriers are occupied, any increase in the concentration of molecules to be transported cannot increase the rate of movement.

Regulated by hormones: they are important in coordinating the activities of carrier proteins

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25
facilitated diffusion
diffusion with help, where molecules diffuse across cell membrane with assistance of carrier proteins. carrier protein changes shape and molecule is released on the other side of membrane diffusion takes place from high concentration to low concentration does not require ATP for example amino acids or glucose proteins bind to molecules bring in glucose and AA
26
active transport
process of using ATP to pump molecules across membrane against the concentration gradient they move from low concentration to high concentration using active transport a cell can take in or pass out substances regardless of their concentration which is why energy is needed. For example membrane pumps sodium ions and potassium ions which are high in the nerve cells of the body bring in glucose, certain ions, AA
27
endocytosis
process that brings materials into the cell involves the cell absorbing large particles such as proteins or even whole organisms such as bacteria, viruses, from outside by engulfing them with the cell membrane to form a vesicle like a bubble with in the cytosol brings in cholesterol, iron ions The cell membrane folds around a particle until the particle is completely enclosed, the vesicles so formed then pinches off and suspended in the cells cytoplasm
28
exocytosis
release of molecules from the cell, things leaving the cell contents of vesicle are emptied, vesicle formed inside cell then, membrane of vesicle fuses with the cell membrane and contents emptied into extracelluar fluid empty secretions such as mucus or digestive juices
29
epithelial tissue
covering and lining tissue that protects lines inside of organs consist of cells very closely joined together cells that vary in size in different tissues (thin&flat, column/cube shaped) mouth lining, outside lung, outer layer of skin
30
connective tissue
supporting tissue that holds body parts together made of widely spaced cells separated by noncellular material called matrix eg: blood, bone, adipose (fat) tissue, ligaments (bone to bone), tendon (muscle to bone), cartilage under skin there is loose connective tissue matrix of blood is plasma
31
muscle tissue
contracting tissue that responds to stimulus made of long, thin, muscle cells/fibres responds to stimulus by contacting and relaxing skeletal: (striated/voluntary) attached to bones arms and legs smooth: (non striated/involuntary) in walls of many organ uterus, stomach, blood vessels cardiac: branched and striated with intercalated discs/involuntary) contacts to pump blood around body involuntary: something you can't control
32
nervous tissue
carries message in form of electrical impulses around body found in brain, spinal cord, nerves composed of neurons (nerve cells) with long projections from the cell body stimulation of a neuron causes messages of to be passed along projections throughout the body
33
metabolism
total of all chemical reactions/processes occurring in your body. maintains a balance between energy released and energy used c:breaking down large molecules broken down to smaller ones energy released cellular respiration a: building up small molecules built up to larger ones energy required
34
enzymes
proteins that allow chemical reactions to take place at body temperature enzymes work by reducing activation energy enzymes are specific: enzyme and its substrate have a shape and structure that allow them to fit together. complementary part of enzyme where molecule combines with substrate is the active site, when combined it is the enzyme-substrate complex 5. enzymes can be denatured (lose shape) by heat and lose catalytic properties 6. optimum temp is 37ºC and pH varies. over 45ºC enzymes are denatured
35
factors influencing enzymes:
1. increasing concentration of enzyme can increase rate 2. increasing substrate concentration will increase rate as more molecules contact enzymes 3. products must be removed continuously 4. has optimum temp 5. has optimum ph 6. some need cofactors/coenzymes to change active site shape for reaction 7. enzyme inhibitors slow or stop enzyme activity. controls reactions
36
energy for cellular respiration
60% heat energy 40% for ATP inorganic phosphate group joins ADP, ADP and phosphate have a weak bond with stored energy, removing phosphate group releases energy ATP can transfer energy from cellular respiration to cell processes that use energy and ADP can be reused
37
Anaerobic respiration
glycolysis: breaks down one glucose molecule to make 2 two molecules of pyruvate (pyruc=vic acid C3H4O3) also makes 2 molecules of ATP occurs in cytoplasm of cell, doesn't require oxygen If no oxygen is present, pyruciv acid goes to lactic acid lactic acid goes to liver nd recombines with oxygen to make glucose
38
Aerobic respiration
Krebs cycle= citric acid cycle series of reactions where pyruvate is completely broken down to CO2. Krebs cycle make 2 ATP, electron transfer makes 34 ATP in mitochondria, requires oxygen
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lactic acid
during high intensity exercise, O2 can't be supplied fast enough, so muscles burn glucose anaerobically, producing lactic acid lactic acid build up in muscle is toxic and causes fatigue and pain lactic acid is taken by the blood to the liver where it is recombined to form glucose then glycogen (storage form of glucose) after exercise breathing is heavy so oxygen can be repaid recovery oxygen: oxygen required after exercise
40
functions of blood
1. transport nutrients and oxygen to cell 2. transport co2 and wastes away from cell 3. transport hormones to cells 4. regulate pH 5. thermoregulation 6. protect against disease (WBC)🦠 7. clotting to prevent blood loss 8. maintain water and ion content in bodily fluids 💦
41
blood composition
liquid: plasma 55% | non-liquid: formed elements 45% (cells and cell fragments)
42
erythrocytes
RBC suited for o2 and co2 transport have HGB (protein) and has no nucleus to make room for it ( when combine with o2, HGB is red) large SA to V to speed up gas exchange made in bone marrow, destroyed in liver/spleen by macrophages (120 days)😩 small, 8um and flexible to go through narrow capillaries 1. contain Hgb which combines with oxygen 2. have no nucleus, more room Hgb 3. biconcave disc shape: increases surface area for gas exchange and thicker edges= large volume for HGB
43
leucocytes
fight infections/provide immune responses granulocytes: granular cytoplasm, lobed nucleus agranular: lymphocytes and monocytes macrophage is type of monocyte- phagocytic few minutes to YEARS!! get rid of dead or injured cells 😭(RIP) and invading microorganisms 🦠
44
thrombocytes
small cell fragments with no nucleus😔 1/3 of RBC🖕👌 made in bone marrow life span of a week important in coagulation
45
plasma
91% water rest is dissolved substances glucose, AA, ions, wastes (urea: waste of protein metabolism), gases
46
oxygen transport
3% dissolved in plasma 97% carried in HGB to make oxyhemoglobin this bond is v loose to breaks down easily to release oxygen when o2 conc is high (capillaries in lungs), o2 combines with HGB easily when o2 conc is low (cells) oxyhemoglobin breaks down
47
carbon dioxide transport
8% dissolved in blood plasma 22% combines with HGB to form carbaminohaemoglobin 70% carried in plasma as bicarbonate ions (HCO3-) (H+) co2 diffuse into plasma because of con grad, most of it reacts with water to from carbonic acid. this then dissociates into hydrogen ions and bicarbonate ions in lungs: 8% diffuses out 22% breakdown then diffuse 70% ions recombine to carbonic acid then breaks down by enzymes to water and co2, then diffusion
48
arteries
carry blood away from the heart carry oxygenated blood have thick, smooth, muscular walls with elastic fibres no valves high pressure blood because it is closer the heart, increase as ventricles contact further down in skin because it contains high pressure blood
49
veins
carry blood toward the heart carry deoxygenated blood thin, relatively inelastic (pressure is constant) walls with little muscle have valves blood is under low pressure because most of the pressure is lost as it flows through the tiny capillaries no elasticity
50
capillaries
Microscopic connects veins and arteries network 1 cell thick: thin for easy diffusion of nutrients and wastes
51
vasoconstriction/dilation
walls are made of smooth muscle and elastic fibres (stretch and recoil). the recoil keeps blood moving and maintains pressure Vasoconstriction: contraction to reduce the lumen (inside space) size/diameter of artery to reduce blood flow to an area. reduce loss of body heat in cold temperatures, arteries constrict to let less blood go to the skin and more in the core region. vasodilation: relaxing to increase lumen size, increase blood flow to an organ.In the heat, blood vessels close to the surface of the skin enlarge. This process is called vasodilation . This allows more heat to be lost from the blood. adrenaline causes vasoconstriction in most arterioles, but vasodilation in skeletal/cardiac muscle
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systole and diastole
systole: when heart muscles contract, pumping diastole: when heart muscles relax, filling artrial systole/ventricular diastole: atria contracts forcing blood into ventricles ventricular systole/ atrial dyastole: atria relax and refill while ventricles contact which forces blood into arteries
53
cardiac output
=stroke volume x heart beat stoke volume= volume of blood forced from a ventricle each contraction cardiac output= amount of blood leaving leaving a ventricle every minute
54
sinoatrial node
collection of nerve cells in the wall of the right atrium pacemaker starts each cardiac cycle by sending nervous impulses which cause the atria walls to contracts, nerve impulses reach the atrioventricular node causing ventricles to contract-> frequency of this is called heart rate
55
vaso and exercise
when you exercise, large increase in blood flow Is needed to supply oxygen and nutrients and remove carbon dioxide and heat vasodilation of blood vessels in muscles and contraction to blood vessels started by anticipatory response from nervous system continued because wastes (CO2, lactic acid, heat) all act as vasodilators
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antigen
protein molecules of the surface of erythrocytes that determine blood type capable of stimulating formation of antibodies antibodies: molecules in plasm that remove foreign bodies (pathogens) leucocytes then engulf and destroy inactivated pathogens specific to each pathogen
57
Rh factor
a further antigen on erythrocyte surface rh- doesn't have antigen and makes antibodies that destroy the Rhesus factor rh+ person has the antigen that makes no antibodies that destroy the Rhesus factor antibody for rh is not normally present in plasma only produced after exposure to it. 1st exposure sensitises person, so nay subsequent exposure leads to rapid production of antibodies
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if wrong blood type is given
``` antibodies in plasma combine with antigens on the surface of foreign blood Agglutination occurs (clumping of cells) ```
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7 types of blood transfusions
whole blood: blood taken with anti-clotting agent added (eliminates disease risk) Autologous: patienst own blood used that was collected before surgery red cell concentrate: blood centrifuged and only erythrocytes taken (anaemic/heart disease) plamsa: used to provide extra clotting factors in severe bleeding and liver disease platelets: when platelets are too low Cryoprecipitate: plasma frozen and slowly thawed. contains many clotting factors and used for haemophiliacs Immunoglobulins: group of proteins acting as antibodies extracted from blood of people that are immune to a particular disease.
60
blood clotting and defence
1. injury to lining of a blood vessels exposes a rough surface to which plackets stick to 2. sticking platelet attract others, so a plug is built at the site of the injury 3. platelets release vasoconstricttors that enhance constriction of damaged vessels ^for small injuries 4. blood clotting factors form a fibrin cloth reinforces the seal. fibrin cloth form a mesh that traps blood cells after clot is formed, clot retraction occurs(threads contract, pulling damaged blood vessel edges together,) as this occurs a fluid called serum is squeezed out. then scab formed-->acts as a mechanical barrier to the entry of pathogens. blood coagulates to prevent blood loss from injured tissue. clotting factors catalyse the conversion of plasma protein to an active enzyme
61
nose structure and function
nasal cavity with l&r chamber (nostrils) that lead to pharynx projections known as conchae increase surface area filters (hair), warms (capillaries), moistens (mucus) the air before it enters the lungs has olfactory receptors enhances sound produced in speech mucus and hair trap dust
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pharynx
air from nasal cavity passes through here 13cm, direct air to larynx used to pass food to oesophagus
63
larynx
stretched between cartilage are two folds of mucus membrane called vocal folds the edges have elastic ligaments that vibrate (vocal chords)
64
trachea
has c-shaped cartilage bands that allowing the oesophagus to expand into the gaps in the trachea when swallowing lined with ciliated mucus membrane to trap solid particles mucus is produced from goblet cells
65
bronchi
where trachea divides into secondary and tertiary bronchi | kept open with cartilage and lined with cilia and mucus
66
bronchioles
very fine tube that lead to the alveoli | walls of smooth muscle, no cartilage
67
alveoli
around 300 million each lung tiny air sacs, in clusters, wall have very thin membrane for diffusion 1 cell thick, large sa surrounded by dense network of capillaries chemical surfactant coats the inside alveoli to lubricate it and prevent friction and closing of alveoli
68
lung structure
right has 3 lobe left has 2 lobe pleura membrane covers surface of lungs and inside of chest. between 2 layers of membrane is pleural fluid which hold lung against inside of chest wall and allows lungs to slide along wall when breathing
69
intercostal muscles
muscles between ribs, internal and external when the external muscles contract they they pull the ribs upwards and outwards, increasing volume of thoracic cavity contraction of the internal muscles pulls ribs closer, decreasing the thoracic cavity. this increase pressure inside lungs and air is diffused out
70
diaphragm
dome shaped muscle | contraction increases volume of thoracic cavity
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how lungs are specialised for gas exchange | x5
1. alveoli give lungs a very large internal surface area, so lots of gas can be exchanged in a short amount of time 2. each alveoli is well supplied with blood vessels, so that as much blood as possible is close to the air in the alveolus. the continuous flow of blood helps maintain a difference in concentration of o2 and co2 in blood and lungs. concentration gradient is necessary for diffusion 3. wall of alveolus is very thin (1 cell thick), gas doesn't have to travel far when moving in and out of blood. 4. lungs positioned deep inside body to prevent excessive evaporation of fluid that covers the respiratory surfaces, it is important that the alveolus membrane is covered by a thin layer of moisture because gases can only diffuse in and out of the blood when they are dissolved in fluid. 5. the lung volume can be changed by movements of the respiratory muscles, so that the air is made to move in and out of lungs. constant changing of air in the alveoli helps to ensure that there s always a difference in o2 and co2 concentration in the lungs and blood.
72
gas exchange in alveolus
blood in capillaries is from the pulmonary arteries. this blood has low level of oxygen, lower than the concentration of oxygen in the alveolus. oxygen dissolves in the moisture on the inside of the alveoli and diffuses through the membrane through capillary walls and into blood. the blood arriving at alveoli has high concentration of co2. (waste from cells) so the concentration of co2 in capillaries is higher than the concentration in the alveolus. co2 diffuse out of blood and into the alveolus. this is why the expired air has more co2
73
how is concentration gradient for O2 and CO2 maintained?
constant flow of blood through capillaries.the new blood pumped is low in o2 and high in co2 so conc grad is maintained constant movement of air in and out of lungs. the air is high in o2 and low in co2
74
inspiration
pressure in lung must be less than atmospheric pressure, this is done by increasing lung volume diaphragm and external intercostal muscles contract diaphragm flattens and EIM contraction causes ribcage to move up and out as pleura sticks to internal wall of chest cavity the lungs expand with it air flows in til pressure is equal
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expiration
diaphragm and external intercostal relaxes diaphragm bulges more into chest cavity and ribcage moves down reduces thoracic cavity air flows out til equal forced breathing: intercostal muscles contract to actively lower ribcage
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mouth
mechanical: jaw and teeth cut, tear, crush and grind food tongue mixes it up with mucus into a round lump called bolus chemical: salivary amylase ptyalin begins starch breakdown large starch molecules to smaller ones
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salivary glands
3 types, 2 of each 1. parotid salivary gained (front of ear) 2. sublingual salivary gland (under the tongue) 3. sub mandibular salivary gland (under mandible bone)
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teeth
incisors: (4) biting and cutting, chisel shaped canines: (2) tearing, pointy edge premolars: (4) crushing and grinding molars: (6) crushing and grinding 32 together
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food swallowed
bolus is pushed into pharynx by tongue oesophagus: made of mucosa, muscle (circular and longitudinal) oesophagus pushes food from the mouth to the stomach by a wave of circular, muscular contractions called PERISTALSIS. movement lubricated by mucosa, prevents friction
80
stomach
after passing the diaphragm, the oesophagus reaches the stomach mechanical: waves of muscular contraction churns food and mixes it with gastric juices (HCl and enzymes) into thick soupy liquid called chyme stomach has third muscle (oblique) to assist with churning chemical: gastric juices made in gastric glands of mucosa, contains enzyme pepsin (gastric protease) that begins protein breakdown. pepsin works in acidic conditions, that's why it need activated by Hal to go from pepsinogen to pepsin absorption: only alcohol and drugs absorbed in to blood
81
stomach wall lining
deep folds called rugae line stomach to help it expand to increase volume first is the cardiac sphincter then it is the pyloric sphincter thick mucus walls
82
stomach to small intestine
chyme goes into the duodenum (1st part of small intestine), through the pyloric sphincter (prevents food spilling into the duodenum too soon) transferred by peristalsis (2-8hrs)
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small intestine parts
1. duodenum 2. jejunum 3. ileum
84
duodenum and jejunum
mechanical: waves of muscular contractions (L&C walls of small intestine),churn the food, peristalsis bile stored in gall bladder, and made in liver, is secreted through duct and emulsifies fats chemical: pancreatic juices from the pancreas enter the duodenum (pH8) and neutralises the chyme, contains enzymes - pancreatic protease: proteins to amino acids -pancreatic amylase: carbohydrates to simple sugars -pancreatic lipase: fats to fatty acids and glycerol intestinal juice fro intestinal glands in the mucosa completely chemical digestion
85
bile
emulsifies fats (breaks them down to tiny droplets, doest chemically change it) has salts in it, not an enzyme travels via duct to duodenum, helps neutralise chyme increases surface area of fats so pancreatic lipase cancan quicker
86
ileum
most products of digestion (V+M, H2O) are absorbed into the blood capillaries of the villi through diffusion, osmosi and active transport (depends on conc) fast and fat soluble vitamins absorbed into the lacteals of the lymphatic system and transported to the chest, where they enter the blood and go to the liver lacteals are permeable to larger fat molecules villi and microvilli in small intesine increase surface area to increase absorption rate
87
large SA of small intestine
very long (6m) inner mucosa lining has many folds mucosa has villi on it, cells covering villi have further projections (microvilli) has dense network of capillaries to absorb nutrients epithelium is very thin (1 cell thick)
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ileum to large intestine
waste products of digestion go through large intestine 1.5 m long, no villi but mucosa is secreted to lubricate bacteria breakdown remaining organic compounds vitamins, minerals and water absorbed into blood, leaving contents semi-solid faeces stored in rectum and eliminated through anus faeces consists of, undigested cellulose, bacteria, bile, pigments, cells. FUN FACT: cellulose stimulates movements of the alimentary canal.
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large intesine structure
``` caecum (appendix is attached) appendix (lymphatic tissue) ascending colon, transverse colon, descending colon sigmoid colon rectum anus ```
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villi and absorption
fatty acids + glycerol: diffusion into lacteal AA: active transport water and water soluble vitamins: diffusion simple sugars: active transport
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lymph and fluid balance
at the atrial end of the blood capillary, fluid tends to leak because of high pressure, some fluid returns at the venous end of capillary, the rest of the fluid now in tissues is returned as lymph. clear watery liquid formed from interstitial fluid (between cells). help destroy dangerous bacteria 90% of this fluid goes back into the blood capillaries and the rest enters the lymphatic vessel (interstitial fluid in a lymphatic vessel is called lymph) the lymph capillaries lined with overlapping epithelial cells that allow fluid to enter. Capillaries open to large vessels, often with valves to prevent back flow
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lymph nodes
occur at intervals along lymphatic vessels where lymph vessels carry lymph to surrounded by capsule of connective tissue large particles are trapped in meshwork of fibres as lymph flows through spaces in lymph node lymphocytes and macrophages (phagocytosis) are produced to fight off invaders in lymph.
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what happens to lymph after lymph node
sent through the efferent vessel and sent through the right lymphatic or thoracic duct where merges with the veins and the fluid reenters the circulatory system
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organs of excretory system
lungs: release co2 and h20 vapour from cellular respiration liver: convert substances in form we can excrete skin: sweat glands, removes waste, and sweat for cooling, salt. contains byproducts alimentary canal: passes out bile pigments from breakdown of haemoglobin to faeces kidney: principal excretory organ, filters blood stream to remove toxic waste products
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skin
main function is protection and temperature regulation and excretion of wastes epidermis (closely packed epithelial cells/tissues) dermis (connective tissue) has sweat glands, hair follicles, nerves and capillaries subcutaneous layer (innermost skin layer) sweat glands excrete 500ml of water a day contains salts, urea, lactic acid, drugs sweat glands are found in lower layers of skin, a duct carries sweat to a hair follicle or skin surface where it opens at a pore. cells surrounding glands contract and squeeze the sweat to the skin surface
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deamination
if other energy sources have been used up, body can metabolise large amounts of protein. main byproduct of breaking down proteins is ammonia (NH3), excess protein in diet can't be stored deamination: removal of the amino group from excess amino acid molecules in the liver forming ammonia AA + O2 ---(enzymes)--> carbohydrate + ammomnia ammonia is toxic so they are made into urea (less toxic molecule) the carbohydrate is broken down into energy energy + CO2 + NH3 ----> UREA + H2O ammonia is converted to urea compound made by CO2 and NH3 in the liver. urea circulates in blood and is filtered out by kidneys urea is low toxicity so it needs water to dissolve it in and get rid of it (urine) worn out cells are a source of protein and are broken down into AA
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liver functions
1. deamination 2. detoxification: alcohol, drugs, antibiotics 3. hormone removal, deactivates and converts to a form to be excreted 4. dead RBC and haemoglobin are broken down in liver and passed out with faeces 5. carbohydrate metabolism: excess glucose turned to glycogen for storage and glycogen turned back to glucose when needed. depends on body needs 6. lipid metabolism: excess carbs to fat 7. heat production, main heat producing organ in body 8. production of bile: emulsifies fat in duodenum 9. stores vitamins and minerals 10. protein synthesis
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fluid contents in kidney
water most abundant in body 40-80% intracellular and extracellular fluid water intake=water outputs amount of water consumed and urine formed is regulated by brain receptors and ADH hormone (antidiuretic hormone) which target nephrons and stops them from releasing water through urine ADH produced when body is dehydrated
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regions of the kidney
renal cortex:outer position, dark red, contains bowman's capsule renal medulla: innermost region, holds renal pyramids (8-18), loop of henle, pale pink renal pelvis: inner layer, cream colour, collects urine from collecting ducts -> 3 major calyces-> renal pelvis before it goes to bladder. acts as funnel for urine flow into ureter
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nephron
microscopic functional unit of kidney nephron = glomerular capsule + renal tubule (5cm long) + associated blood supply I million nephrons each kidney
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sections of nephron
1. renal corpuscle (glomerular capsule) 2. proximal convoluted tubule. descending limb of loop of henle 3. loop of henle ascending limb of loop of henle 4. distal convoluted tubule, 5. collecting ducts
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renal corpuscle
consists of glomerulus (knot of capillaries) inside glomerular capsule (double walled cup that that surrounds glomerulus) afferent: enters, arteriole going into RC efferent: away, arteriole leaves glomerulus filtration takes place in real corpuscle
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blood flow in nephron
1. renal artery (blood from aorta) divides into afferent 2. afferent arteriole forms knot of capillaries (high bp) 3. efferent arteriole breaks up into network of capillaries called peritubular capillaries 4. peritubular capillaries surround PCT, desc and asc limb of LOH and CD 5. venule 6. renal vein to inferior vena cava things get squirted out from glomerulus to glomerular capsule
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steps of urine transformation
glomerular filtration selective reabsorption tubular secretion
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glomerular filtration
high BP in GC is due to the afferent arteriole having a wider diameter efferent arteriole leaving glomerulus is narrower, resistance to blood flow High BP forces small ions, glucose, AA, H2O, through capillary walls and into bowman capsule space large molecules, (RBC, large proteins), remain in capillaries the filtrate is collected by Bowmans capsule and enters tubule
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selective reabsorption
of filtrate by cells that line renal tubule (H20, salts, glucose, AA, vitamins, minerals, ions) water leaves membrane on descending part of LOH Na and Cl reabsorbed on ascending limb of LOH (so doesn't lose more water) under hormonal control of ADH where more or less water can be reabsorbed facultative reabsorption: active reabsorption of H20, ATP is needed ADH causes kidneys to retain water (alcohol interferes with this action
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tubular secretion
adding materials/molecules to filtrate active transport peritubular secretion into tubes of nephron, last chance for unwanted materials to leave the body remove H ion to regulate pH removes ammonium ions as well water and other substances not reabsorbed drain forms the collecting ducts into renal pelvis to ureter and bladder ADH in kidneys (CD), to remove water from urine, decrease urine output, makes urine more concentrated dark yellow instead of pale yellow
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structure and function of nephron
1. glomerular capsule surround glomerulus to collect fluid filtered out of blood capillaries 2. arteriole leading out of glomerulus is narrower, so this raises BP so more fluid is filtered out of blood 3. tubule has 2 sets of convolutions and a long loop so that each tubule has a large SA for secretion and reabsorption 4. 1 million nephrons each kidney, increase surface area for reabsorption
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urine composition
0.5 litres per day lost to remove wastes more water leads to increase urine output and decrease in concentration 99% of water reabsorbed no protein no glucose contains uric acid (breakdown of nucleic acids) and creatinine (breakdown of creatine phosphate) 96% water 2% urea 1.5% various ions 0.5% other (creatinine, uric acid)
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tranport in glomerular filtration
``` passive: water urea glucose AA vitamins salts ```
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transport in selective reabsorption
passive: water ``` active: salts glucose AA vitamins Na, Cl ions ```
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transport in tubular secretion
``` active: H ion NH4 ion creatinine toxins drugs (penicillin) neurotransmitters UREA water (under ADH influence) ```
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function of musculoskeletal system
movement postural support heat production during cold stress (shivering)
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properties of muscle unique to other cells | x4
1. contractibility: cable of getting shorter, contracts and relaxes 2. extensibility: can be stretched 3. elasticity: when stress is removed, they return to original shape/length (recoil) 4. excitability: nerve stimulations, muscles are activated by nerve impulses from the brain
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microstructure of muscle cell
muscle cell is an elongated cyclinder that lie parallel to each other, many nuclei and mitochondria and has sarcolemma and sarcoplasm. made of bundles of muscle fibre held together by connective tissue. connective tissue have hundreds of myofibrils which is made of myofilaments which is made of actin and myosin
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sarcolemma sarcoplasm sarcoplasmic reticulum
cell membrane around muscle cell cytoplasm of muscle cell t tubule, contains, stores, recreates Ca ion
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sarcomere
small unit of skeletal muscle that contracts made of acting and myosin filaments sections/division of sarcomere: - Z lines, boundary of sarcomere. where 1 joins onto the next, anchors for actin - A band: thick filament region (dark band is myosin) - I band: point between thick filaments, so thin filaments (light band are actin) - H zone: distance between thin filaments in middle - M line: midline of sarcomere
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myosin structure
head, neck, tail head: ATP binding sited actin binding site myosin heads stick out of filaments and act as cross bridges. moving myosin heads creates a power stroke resulting in muscle contraction movement is driven by ATP filaments do not move
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actin structure
2 proteins chains wrapped around each other makeup actin proteins are: - troponin: small round proteins that allow Ca ion to it. Ca ion binding site - tropomyosin: long thin strand, blocks the myosin binding site, acts as regulator actin filament and actin binding proteins regulate accessibility of the myosin heads. actin moves, not myosin
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sliding filament method | x9
1. nerve impulses stimulate muscle fibres 2. ATP breakdown into ADP and phosphate group, which provides energy. binds to myosin head at binding site 3. calcium binds to troponin at binding site and moves tropomyosin out of its connection 4. myosin heads attach to actin 5. cross bridges form 6. myosin pulls actin filaments towards centre of sarcomere, movement occurs 7. actin sliding across myosin 8. sliding of filaments occurs due to continuous attaching and detaching of myosin heads on actin filaments (breaking and remaking cross bridges-like rowing) 9. results in muscles shortening, contraction filaments don't change in size
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muscle structure during contraction
``` I band shortens h band shortens Z lines come closer together (shorten) sarcomere shorten by about 1/3 of its resting length a band remains the same length ```
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muscle tone
skeletal muscles are never completely relaxed, in mild state of tetanus many different fires take it in turn to contract but without movement muscle tone is important when standing/sitting: stabilises skeleton and constantly adjusts to maintain posture and balance eg head is her up by partial contraction of neck muscles maintenance of muscle tone when active or at rest is complex receptor cells in muscles initiate sin voluntary nerve responses in spinal cord and brain to adjust muscle tone
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skeletal muscles working together | biceps and triceps
agonist, prime mover: contracting muscle (bicep), causes desired action antagonist: relaxing muscle (tricep), have opposite reaction origin:end of muscle fixed to stationary bone insertion: attachment of the other end of muscle to movable bone origin of bicep: shoulder, scapula insertion of bicep: forearm, attached to radius origin of tricep: shoulder, scapula and humerus insertion of tricep: forearm, ulna synergists: helps an agonist or prime mover fixators: when synergist immobilises a joint, keeps joint firm and still during movement
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blood flow in nephron
renal artery to afferent arteriole to renal corpuscle to efferent arteriole to peritubular capillaries peritubular capillaries surround the proximal and distal convoluted tubules, limbs of LOH, CD venous blood drains from the network of capillaries and leave kidney in renal vein
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structure of muscle cells
held together in bundles, sheath of connective tissue surrounds each bundle so it can function as an individual unit connective tissue allows adjacent bundles to slide easily over each other as they contract sheath of connective tissue join each other and towards the end of the muscle they taper and blend CT gives muscle toughness
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emphysema
long term exposure to toxins cause damage to alveoli making them lose their elasticity reducing internal surface area loss of elasticity means that lungs are always inflated and breathing requires voluntary effort
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lung cancer
development of tumour in lungs | common in bronchi walls, irritates mucous membrane causing excess mucous production which make alveoli rupture
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lung infections
Pneumonia: bacterial, fungal, viral tb: bacterial inflammation from infection causes secretion of fluid and mucus into alveoli -> reducing amount of air they have
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asthma
allergic response to foreign substances that enter the body muscles around bronchi go into spasm causing narrowing making it hard to breathe less o2 to cells
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constipation
when large intestine movements are reduced and contents remain their for long time. poo is harder lack of cellulose
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diarrhoea
frequent defection of watery faeces | irritation of both intestines, increase peristalsis so contents mover through before enough water is absorbed
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fibre in diet
soluble fibre intake lowers cholesterol | they trap fats in intestines and prevent their absorption into the body
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coeliac disease
unable to tolerate gluten if they do, immune system attack villi in small intestine, meaning nutrients not absorbed as well which could lead to malnourishment
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kidney stones
solid crystals built up in kidneys, when urine urine is too concentrated and insuffienct fluids small crystals pass without too much pain large crystals get stuck in thin tubes and cause lots of pain
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kidney failure
when kidneys lose ability to excrete waste and control fluid levels most affect glomeruli and decreases it ability to filter blood I-> RBC and proteins may leave blood into filtrate if too many proteins are lost there is decrease in blood protein and increase in fluid tissues leading to swelling
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dialysis
method of waste removal when kidney failure occurs
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peritoneal dialysis
peritoneum:membrane lining abdominal cavities and organs, has a rich blood supply occurs inside body, using peritoneum as a membrane across which waste can be removed catheter (tube) placed through wall of abdomen and 2/3 L of fluid (with blood products and no waste) is passed through tube and wastes in blood diffuse to tube every day
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haemodialysis
passing blood through dialysis machine blood passes through lots of tubes made of semipermeable membrane and immersed in fluid (no waste) waste from blood diffuses into tubes 4-5 hours for 3 times per week
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kidney transplant
transplantation of kidney into a patient with end stage kidney disease (kidneys lose 90% ability to functions properly) only one kidney needed ``` adv: better quality of life lower death risk fewer dietary restrictions lower treatment cost ``` ``` disadvantage: risk of infection risk of blood clots and bleeding failure or rejection of donated kidney *after kidney is transplanted-> you need to take anti-rejections drugs or immunosuppressant drugs ```
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function of skeletal system
1. provides a firm framework that gives shape to the body and supports the internal organs. 2. Articulation (movement) anchor points for muscle. skeleton determines extent of movement of body parts 3. protection of vital organs 4. bones act as storage organs for mineral salts and fats (Ca, P, Na, K). distributed via circulatory system when required 5. blood cell production. red bone marrow has stem cells that can differentiate into blood cells. which cell is produced depends on the bodily factors
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structure of bone
1. diaphysis: shaft makes up main part of bone. hollow cylinder of compact bone surrounding a cavity. cavity filled with yellow bone marrow which is a fat storage site. 2. epiphysis: enlarged ends of bone, covered by articular cartilage. have compact bone on the outside but their central regions contain spongy or cancellous bone (more porous with large spaces filled with marrow-may contain red bone marrow) 3. periosteum: dense, white, fibrous cartilage covering on the outside surface of the bone. no periosteum on joints where bone is covered with articular cartilage
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microscopic bone structure
bone is classified as connective tissue (cells w matrix) l-> inorganic salts in matrix increase rigidity, strength and hardness) single units called osteons/Haversian canals
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osteon
centre of each osteon is a central canal around which are lamellae (concentric layers of bony matrix) between lamellae are small spaces in matrix called lacunae (bone cell occupies each lacunae) projectuions from each bone cell enter canacliculi (tiny canals)and make contact with adjacent bone cell (materials passed) central canal contains at least one blood vessel, (or lymph vessel and nerves)
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osteon in compact bone
run parallel to the long axis of the bone giving it maximum strength lamellae surround Haversian canal
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cancellous bone structure
not organised into osteons. consist of an irregular arrangement of tiny bony plates called trabeculae. bone cells occupy spaces in trabeculae, but lamellae are not organised in concentric layers and nerves and blood vessels pass through irregular spaces in the matrix found only in epiphysis region.red bone marrow confined to these cavities epiphyseal lines of cartilage are remnants of plate seen in young growing bones
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bone classification
1. shape - long: femur - short: carpals/tarsals - flat: scapula, sternum - irregular: pelvis - sesamoid: develop in tendons, patella 2. structure: - compact bone: dense, thicker, harder - spongy/cancellous bone: porous, many large spaces, filled with yellow or red marrow and has network of bony plates (trabeculae)
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long bone (femur)
shaft called diaphysis medullary cavity filled with yellow bone marrow that stores energy as fat ends called epiphysis thin layer of cartilage (articular hyaline cartilage) covers each epiphysis to reduce friction at the joint
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hardness of bone
brittle calcified matrix (calcium phospate) increase hardness while collagen fibres give bone a degree of pliability
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osteoblast
young cells that produce bone | forms bone matrix (calcium phosphate and collagen fibres)
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osteocyte
formed from osteoblast mature bone trapped in matrix maintains bone tissue
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osteoclast
reabsorbs/destroys bone tissue releases acidic enzymes to dissolve bone and make cavities during growth and healing active during ageing
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ossification
bone formation and remodelling | bones of skeleton are formed from hyaline cartilage oin embryo by ossification
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cartilage
1. hyaline: closlely packed fine fibres (collagenous) in matrix. chrondocytes seen in lacunae - strength and flexibility - rings of trachea and bronchi, end of bones 2. elastic: elastic and collagen fibres not so closely packed, flexible/elastic support - ear cartilage 3. fibrocartilage: thick collagenous fibres allows for compression supports body weight and endures heavy compression -intercollated discs between vertebrae - knee joint - connecting pubic bones no blood vessels in cartilage *nutrition and waste removal for cells is through diffusion through matrix-> slow process chrondocytes have slow metabolism (slow cell division)-> slow healing process
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joint
site where two or more bones come together some are rigid (tightly fit) some allow bones to move in relation to each other (loosely fit)
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types of joint
1. fibrous: no movement between bones (fit tightly together) held in place by fibrous connective tissue -sutures of skull hard to break, bone fracture before the joint ``` 2. cartilaginous held in place by cartilage, slight movement -between vertebrae -pubic symphysis - between ribs and sternum ``` 3. synovial: freely movable, movemnt limited by ligaments, tendons muscles and adjoining bones has s cavity between articular cartilage surfaces of bone, covered with s membrane
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types of synovial joints
1. ball and socket joint can move in 360º plane (back to forth, side to side, rotation) - hip, shoulder 2. hinge joint: back and forward -knee, interphalangal, elbow 3. pivot (trochoid/rotary) rotation -vertebrae -radioulnar in wrists and elbow 4. gliding side to side, back to front -between ribs and vertebrae -base of thumb 5. condyloid: back and forward, lateral (similar to hinge) -wrist joint -between phalanges and metacarpals/metatarsals 6. saddle joint: back and forward, side to side, some rotation -thumb
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knee joint
articular capsule surrounds and encloses the bone 1. the fibrous outer layer capsule (made of dense fibrous connective tissue) attached to the periosteum. Flexibility permits motions and strength avoids dislocatio. hold bones together. 2. synovial membrane: makes up inner layer of capsule. loose CT and lots of blood capillaries. lines entire joint except articular cartilage and articular disc
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types of movement at joint
``` flexion (decrease angle between bone) extension (increase angle between bone) abduction (movement away from midline) adduction (movement towards midline) rotation (movement around long axis) ```
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cartilage
within matrix are spaces that contain cartilage cells (chrondoblasts), the produce matrix and gradually become surrounded by it until they are trapped in small spaces called lacunae (chrondocytes) variation of fibrous structure of cartilage classifies it into three types
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synovial fluid
secreted by synovial membrane and fills synovial cavity lubricates joint and provides nourishment contains phagocytic cells that remove pathogens keep surface of bone from touching, small amount that coats increase fluid means swelling
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articular cartilage
covers articulating surfaces of bone forming the joint | smooth surface for movement
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articular disc
``` in knee (meniscus) split cavity in two to direct fluid into areas of greater friction ```
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bursae
little sacs of synovial fluid | prevent friction between bone and ligament/tendon or bone and skin
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accessory ligaments
holds the bones together in many joints
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osteoporosis
when loss of bone mass with ageing becomes sufficient to impair normal functioning l-> minor injuries could lead to serious fractures need to increase calcium intake, vitamin D, exercise and quitting smoking
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osteoarthritis
joint cartilage deteriorates and bone surface is no longer protected exposed bone begins to wear way and bony spurs/growths may develop from exposed end of bone that forms the joint, the spurs decrease space in joint cavity which restricts the movement symptoms: pain and stiffness in joints (more severe after pressure applied or exercise), crackling sound when they move no cure joint replacement surgery
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genes
sections of DNA that contain genetic code. store information that determines the activities and structure of the cell consists of up to 1000 bases, possibilities are enormous
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chromosomes
dna strands are bound to proteins called histones. each DNA is coiled around the histones so long molecules can fit into a small space when a cell is about to divide, the coiled chromatin becomes even more tightly coiled to form chromosomes
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DNA
deoxyribonucleic acid found in nucleus of the cell | contain genetic information that determines the structure of a cell and how it functions
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steps of DNA replication
1. double stranded DNA molecule unwinds and units by helicase (enzyme), and weak hydrogen bonds are broken 2. primase is required to initiate/start replication. The primer helps DNA polymerase to know where to start copying 3. DNA polymerase: binds to a single strand and helps create/build a complementary strand (using free nucleotides in nucleus) to know where to start copying 4. ligase is needed to glue/seal DNA fragments together 5. the DNA molecule is formed has one strand of the original parent DNA and 1 newly made strand
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transcription
1. takes place in the nucleus 2. triggered by hormone that enters nucleus and binds to specific gene on DNA 3. RNA polymerase then attaches to begin the process 4. helicase makes the double stranded DNA molecule unzip to allow one of the DNA strands to be decoded (template strand) RNA polymerase transcribes the bases on the template strand to make a complementary molecule of mRNA (uracil) 5. mRNA nucleotides floating around in the nucleus find their complement on the DNA strand and bond to gather due to base pair rule sequence of bases tell RNaA polymerase to stop copying this release mRNA molecule 6. once the DNA segment has been copied by the mRNA bases, the mRNA strand separates from the DNA. mRNA contains complementary base sequence to original DNA 7. introns are removed (Junk DNA) 8. the mRNA leaves the nucleus via pore and enters the cytoplasm. it attaches to a ribosome for protein synthesis 9. DNA zips up again to create the original double helix
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translation
1. takes place at a ribosome 2. mRNA is read 3 codons at a time. AUG is the start codon, ribosome start making protein, methionine can be removed later 3. tRNA delivers AA to the ribosomes, each tRNA carries a specific AA. the tRNA anticodon, will match with its complementary mRNA codon 4. ribosome works its way down the strand of mRNA reading off the code. (tRNA is recycled, bringing in more AA) rRNA join AA together by forming a peptide bond 5. as process continues, polypeptide chain is formed until a stop codon 6. multiple copies of proteins are made as other ribosomes copy the first ribosome 7. mRNA is recycles, broken up and nucleotides reused 8. after translation, proteins are modified by folding and shortening them in a certain way (enzymes) transported to where the body needs
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chromatin
in a cell that isn't dividing, coiled DNA form an untangled network called chromatin
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dna structure
building blocks are called nucleotides each DNA consists of two strands of alternating sugars and phosphates with pairs of nitrogenous bases forming cross links between sugar molecules in the two strands twisted into spiral shape (double helix) base contains nitrogen atoms, bond between bases are weak hydrogen bonds
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replication of DNA | interphase
two linked chains in DNA separate because bond between bases is weak each separated sections half of the original and acts as a template for for nucleotides that form the other half using complementary bases
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protein synthesis
amino acids joined to form chemical bonds that hold, AA together joined in ribosome in cytosol of cell. DNA is too big to leave the nucleus so mRNA is used as it is small enough to go through nuclear pores conversion of genetic code carried by DNA to an end product (protein)
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genetic code
types of protein a cell makes is determined by it gens. different genes are activated in different cells (insulin) triplet codes for amino acids that are joined together at ribosomes
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nucleosome
8 part histone structure
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karyotype
photograph of chromosome organised by size shape and banding
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lipid and carbohydrate synthesis
no genes to carry out instructions | made by enzymes (proteins) indirectly controlled by genes
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mitochondrial DNA
in mitochondria small circular molecules has 37 genes 24 genes code for making tRNA molecules, 13 genes are instructions for making enzymes needed to make ATP provides information which is needed for mitochondria to function
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mitochondria
cells and mitochondria are codependent inherited from mother as mDNA in sperm are destroyed in fertilisation used for ancestry, evolution and forensics disease: inability to produce sufficient energy to carry out simple tasks
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epigenetic
study of changes in gene activity that don't involve changes in gene code epigenome: second set of instructions that interact with DNA that activate/suppress expression of certain genes exposure to certain stimuli can change epigenome
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acetylation
add acetyl group | cause DNA to unwind enhancing gene expression
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methylation
adding a methyl group | cause DNA to coil more tightly silences or switches of gene
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cell cycle
G1 phase: first growth, cells produce new proteins, grows and carries out its normal tasks S phase: synthesis, DNA duplicates itself G2 phase: second growth, short phase that involves preparation for cell division M phase: mitotic, cell divides into two daughter cells some cells leave cell cycle and stop dividing for years or rest of life. G0
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inerphase
period between nuclear divisions G1,S,G2 DNA replicates
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prophase
centrioles become visible early on, move to opposite ends of cell (poles) and microtubules radiate from them form framework of fibres called spindle nucleolus disappears and nuclear membrane breakdown chromatin threads of DNA coil to be seines chromosomes (2 chromatid joined at centre with centromere) chromatids are identical to each other and tightly coiled coiling makes it easier to distribute DNA to daughter cell migrate to equator of cell
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metaphase
chromatid line up at equator | centromere of each pair is attached to a spindle fibre
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anaphase
each pair of chromatids separate at centromere | new chromosomes are pulled apart towards opposite poles of cell
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telophase
two sets of chromosomes form tight groups at each pole nuclear membrane forms around each group and nucleolus appears spindle fibres disappear chromosomes gradually uncoil to become chromatin
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cytokinesis
while telophase occurs, cytoplasm begins to divide | furrow develops between two nuclei and deepens til it is cut in two
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cancer
all cancers have common characteristics when a tumour results form uncontrolled division of cells, don't differentiate so the cancer cells can be identified malignant: cells spread throughout the body benign: don't spread to other parts of body but can press on surrounding tissues carcinogen: factors that can trigger cancer (UV, Xray, HPV, ionising radiation, chemicals)
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cervical cancer
caused by HPV, transmitted through genital skin contact during sex Pap test: cells from cervix detect changes in cells that may develop into cancer
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breast cancer
mammogram: Xray picture that detects tumours, even really small ones
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bowel cancer
in large intestine FOBT faecal occult blood test: detects traces of blood caused by polyps/ cancer. polyps can lead to cancer Colonoscopy
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prostate cancer
no screening DRE, digital rectal examination: feeling prostate for irregularities PSA, prostate specific antigen:checks blood for a specific protein produced by prostate gland rising levels can indicate tumour biopsy: small sample of tissue that can be checked for cancer cells
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gonads
primary sex organs | produce gametes
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other secondary sex organs
store gametes bring them together for fertilisation support developing baby
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testes
male gonad, oval shaped produces spermatozoa held and supported in aa skin covered pouch, scrotum, internally divided into 2 sacs each containing a single testis testes lay outside body cavity because production of sperm a temperature that is 2º less than the regular body temperature. contraction of smooth muscle fibre in scrotum wall, moves testes closer to body at a higher temp. Relaxing fibres moves testes away, making it cooler. divided into around 200 and 300 lobules filled with fine tubes called seminiferous tubules. tubules are lined with cells that make sperm. clusters of interstitial cells between tubules secrete testosterone
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epididymis
the seminiferous tubules in each tubule/compartment of a testicle join to gather to form a short straight tubule. straight tubule eventually join into ducts which leave the testicle and lead to the epididymis highly folded tubule at the rear surface of each testis. unraveled= 5-6m, allows for lots of space for sperm storage, can be held form months, during this time, sperm mature
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vasa deferentia
tubule of epididymis continues to become the vasa deferentia. carries sperm away from testis. loops behind the bladder and under the bladder the two tubes going the urethra.
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seminal fluids
nourishes and aids the transport of sperm, semen contains enzymes that activate sperm once ejaculation takes place. 1. seminal vesicle: pair of vesicles behind the bladder. secrets a thick fluid rich in sugars, makes up 60% of semen volume. 2. prostate gland: surrounds urethra below bladder. secretes a thin milky alkaline fluid that becomes part of semen 3. bulbo-urethral glands: pea sized small yellow glands, behind prostate on either side of the urethra. secrete clear mucus which is carried to the urethra by a duct from each gland. act as a lubricant, only a small amount in semen
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erectile tissue
penis contains connective tissue very rich in blood supply | the erectile tissue has a large number of sponge like spaces that fill with blood when sexually aroused (erection)
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ovaries
each side of abdominal cavity, supported by ligaments composed of a mass of connective tissue called stroma, which is surrounded by a layer of cells including germ cells (gametes) each germ cell is enclosed in a follicle, numerous follicles are at different stages of development at any time. as a follicle matures, it moves to the surface of the ovary and ruptures
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Fallopian tubes
egg is expelled into funnel like opening of FT 2 FT, one extending from each ovary carry egg from ovary to uterus fimbriae: funnel like opening of FT is lined with finger like projections that appear to touch the surface of ovary. help guide the egg into tube ciliated epithelium lines the tube. beating cilia and contractions of smooth muscle that lines the tubes help the egg move.
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uterus
pear shaped organ behind the bladder, in front of rectum held in position by broad ligaments, they don't hold the uterus tightly in place, has limited movement so position can vary slightly wall is made of smooth muscle with a soft mucous membrane lining (endometrium) protects and nourished foetus during pregnancy
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cervix
lower end of uterus, protrudes into vagina
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vagina
muscular structure lined with mucus membrane, capable of considerable stretching external opening of vagina is partially covered by a fold of tissue (hymen) vulva (external genitals)= labia majora+labia minora +clitoris
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labia majora &; minora &; clitoris
labia majora: fleshy fold of skin made of fat and fibrous tissue. glands that produce oily secretions. outer part is hairy, inner part is smooth labia minora: smaller folds of skin, beneath and between the labia majora. surrounds external opening of vagina and urethra clitoris: contains erectile tissue, blood vessels and nerves engorged with blood when stimulated
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meiosis
production of gametes with half the number of usual chromosomes, makes 4 daughter cells occurs in gonads involves two nuclear divisions but chromosomes duplicate only once
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meiosis 1
during interphase DNA is copied Prophase 1: chromosomes become visible as two chromatids homologous pairs lie next to each other crossing over occurs (exchange of genes) spindle fibres form and nuclear membrane disappears Metaphase 1: paired homologous chromosomes line up along equator independent/random assortment of maternal and paternal spindle fibers attach to each Anaphase 1: pairs separate and homologous move to poles (23 each side) Telophase 1: nuclear membrane reforms around 23 chromosomes cytoplasm divides in two 2 haploid daughter cells with a different combination of maternal and paternal genes
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meiosis 2
interphase is skipped Prophase 2: centriole migrate and new spindle fibres form nuclear membrane disappears Metaphase 2: chromosomes move to equator and line up spindle attaches to chromosomes Anaphase 2: chromatids spilt and move to poles Telophase 2: nuclear membrane reforms cytoplasm divide
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spermatogenesis
seminiferous tubules of each testis are lined with immature cells called spermatogonia (diploid) at puberty the spermatogonia divide by mitosis to make continuous source of new cells for the production of sperm. Some daughter cells are pushed to the centre of the tubule where they undergo a period of growth. These enlarged cells other primary spermatocyte. They are diploid and undergo meiosis 1 to form secondary spermatocytes (haploid). secondary meiosis occurs which divides the secondary spermatocyte into two spermatids. 4 haploid cells produced. spermatids mature in to sperm for the final stage. much of cytoplasms, of cells is lost and a tail made of contractive material is formed. nourished by special cells takes 72 days and occurs continuously after puberty
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sperm structure
head: contains nuclear material, with a fluid filled vesicle at the tip. contains enzymes that breaks down ovum's outer layer middle: contains mitochondria, allows respiration take place to produce energy for sperm to move. has a little cytoplasm, so has a short life. tail: capable of violent swimming to propel cell forward
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oogenesis
before birth millions of oogonia develop in ovaries. decreases to several 100 thousand at birth which have undergone a growth phase to make primary oocytes, they begin prophase 1 but stops there. each primary oocyte is surrounded by a primary follicle. puberty: follicle growth and maturation begins as follicle matures, the primary oocyte complete meiosis 1, producing two haploid cells that are unequal in size. one secondary oocyte (half chromosomes but almost all the cytoplasm) and first polar body. secondary meiosis is commenced by the secondary oocyte but stops at metaphase 2 (ovulation occurs at this stage). follicle ruptures expelling secondary oocyte and polar body. SO enters FT and if fertilised, meiosis 2 is completed. meiosis 2 also makes two unequal cells. larger one develops into an ovum and smaller one is the second polar body. first polar body may divide, however all polar bodies disintegrate
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ovarian cycle
series of events in ovaries maturation of egg and release into tube development of follicle and corpus luteum 20 - 40 days (28 average) cells in ovaries undergo many divisions but stop dividing before and ovums are actually formed other cells within the ovary surround each immature egg to produce a sphere composed of a single layer of cells (primary follicle)
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events leading to ovulation
at puberty some primary follicles undergo further development cells forming wall of follicle begin to enlarge and divide creating a layer of cells around the developing egg secretions of these cells creates a fluid filled space that gradually forces the egg to the edge of the follicle, forming the secondary follicle. several secondary follicles may commence development in each cycle but only one completes development, others may breakdown to be reabsorbed into ovary. as more fluid accumulates within the follicles, it continues to enlarge and gradually moves to the surface of the ovary. on reaching the surface it creates a bulge that looks like a blister. follicle is now a Graafian follicle (mature). takes 10-14 days to make a mature follicle from a primary follicle. when mature follicle bursts, it expels the egg in a process called ovulation
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after ovulation
ruptured follicle collapses and blood within forms a clot. the clot gradually absorbed by the remaining follicle which enlarge sand changes colour to a cream, corpus luteum. corpus luteum secrets progesterone for endometrium
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if fertilisation doesn't occur
CL reaches max development 8-10 days after ovulation, and begins to degenerate intro fibrous mass of scar tissue, corpus albicans which eventually disappears cycle begins over again. from which ovary the egg come is up to chance
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if fertilisation occurs
CL continues to develop and cycle ceases. CL reaches peak development in the 3rd month, so it slowly begins to degenerate then. cycle resumes after breastfeeding stops
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menstruation
if the egg isn't fertilised, CL degenerates which leads to a decrease in progesterone, so endometrium breaks down. blood from broken down capillaries, mucous secretions and cell debris from uterus lining is lost through vagina. and shedding of endometrium
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FSH
in females: stimulates development and maturation of the ovarian follicle. during its development, the follicle secretes oestrogen. as oestrogen increase in blood, FSH decreases in males: stimulates epithelial tissue of seminiferous tubules in testes to produce sperm
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LH
in males: targets interstitial cells of testes to stimulate secretion of testosterone in females: promotes final maturation of the ovarian follicle, ovulation and production of CL. stimulates secretion of oestrogen and progesterone
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oestrogen
development if female reproductive system | development of secondary sexual characteristics
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progesterone
CL secrets progesterone. there is a gradual decrease in LH as progesterone decreases. maintains the endometrium, development and maintenance of the placenta, and development of milk secreting glands
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testosterone
important in developing immature sex cells into mature sperm | sex drive
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sexual intercourse
rhythmic of epididymis, prostate gland, vas defers and seminal vesicle lead to ejaculation erectile tissue in region of vaginal opening fills with blood which reduces size of vaginal opening. secretion of mucus by glands surrounding cervix and vaginal opening lubricate lining of vagina
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fertilisation
only few 1000 reach the FT high sperm mortality is why there is a lot ovum: surrounded by a layer of follicle cells (corona radiata ) cells are held together by acid. several thousand sperm need to loosen the cells of corona allowing one sperm to complete fertilisation. forms fertilisation membrane which prevents other sperm to enter. tail is absorbed and head forms male pronucleus. meiosis finishes and nucleus of egg forms the female pronucleus which fuses with the male pronuclei to form a diploid nucleus (zygote)
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early embryonic development and implantation
after fertilisation, the zygote travels down FT and begins to divide by mitosis mitosis results in formation of 2 identical cells 2 cells divide again to 4, 8, 16 (cleavage divisions) 6 days after fertilisation, zygote reaches uterus and develops into blastocyst b: hollow ball of cell that surround a cavity filled with fluid. at one side of cells cavity is the ICM ICM: group of 30 stem cells, that will develop into embryo blastocyst remains free in cavity of uterus for 2-3 days before it embeds in endometrium to become firmly attached to uterus wall
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cell differentiation
stem cells: 1. not specialised for any particular function 2. capable of repeated division by mitosis 3. can differentiate into specialised cells proliferation: when cells replicate themselves many times over differentiation: when unspecialised cells develop characteristics and functions of particular types of cells. as stem cells proliferate, different types genes become activated that allow differentiation internal signals: controlled by genes external signals: chemicals released by other cells, contact with other cells, molecules in cell's microenvironment
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totipotent
give rise to all cell types that make up human body, any cell necessary for embryonic development give rise to all cell types that make up membranes that surround developing embryo early embryo before formation of ICM (undergo several rounds of cell division then after 5 days specialise into blastocyst) outer layers form placenta + other tissues
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pluripotent
can give rise to all cell types that make up body, but not all cell types that make up embryonic membranes ICM
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multipotent
exist in embryo and adults give rise to cells that have a specific functions more than one but not all blood stem cell
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continued embryonic development
continued development of blastocyst depends on endometrium being maintained. high levels of hormones stop endometrium breakdown (menstruation) early pregnancy corpus luteum maintains endometrium til placenta takes over first 2 months=embryonic period after is called foetus
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primary germ layers
While implantation of blastocyst, ICM undergoes changes that develop 3 cell layers 1. endoderm 2. medoderm 3. ectoderm
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endoderm
epithelium of alimentary canal and its glands epithelium of bladder, urthera and gall bladder epithelium of pharynx, larynx, trachea bronchi and lungs
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mesoderm
skeletal smooth and cardiac muscle cartilage, bone, blood and other connective tissue dermis of skin
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ectoderm
epidermis of skin hair, nails, skin glands teeth enamel entire nervous system
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embryonic membrane
early in embryonic period: 4 membranes form that lie outside embryo to protect and nourish 1. amnion: 8th day after fertilisation. surround embryo and enclose cavity where it secretes fluid. fluid: protect against physical injury, maintain constant temp and free movement 2. chorion: formed from outer blastocyst cells and layer of mesodermal cells. surrounds embryo and three other membranes as amnion enlarges it fuses with inner part of chorion and eventually becomes main part of foetal part of placenta 2 other membranes become part of umbilical cord
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development of placenta
formed by three months foetal part begins forming at implantation. small branching fingerlike projections form from outer layer of cells (numerous blood vessels form in the projections) and grows into endometrium as chorionic villi penetrate endometrium they become surrounded by mother's blood which has collected in spaces in endometrium foetal and maternal blood don't mic because few layers of cells separate the two. exchange of material takes place by diffusion and active transport placenta attached to foetus by umbilical cord. 2 umbilical arteries (to placenta) blood enters maternal side of via uterine arteries to blood spaces
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function of placenta
organ that supplies nutrients to foetus 1. endocrine: secretes hormones necessary to maintain pregnancy 2. excretory: transports nitrogenous wastes from foetal blood to mother's blood supply to mothers kidneys 3. immune: transport antibodies from mother into foetus 4. nutritional: stores essential nutrients early in pregnancy and release when demand is greater 5. respiratory: transport o2 and co2
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embryo to foetus
muscle segments on either side of neural tube. blocks of mesodermal tissue increase over time to represent beginnings of muscle and vertebrae of spinal column Brain, heart and liver begin forming clefts in throats begin developing. pharyngeal arches form structural elements of face and throat. pouches that develop in clefts make epithelial lining and glands of throat 5th week arm and leg bud start appearing recognisable human form
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sources of stem cells
umbilical cord and placenta SC: can be extracted once baby is born, extracted from discarded tissue multipotent and stored in case baby has bone marrow/blood diseases (leukaemia/anaemia) embryonic SC: from frozen embryos from IVF clinics unused embryo can be given to research but requires destruction pluripotent (maybe rejection by patient body) adult SC: patients own cells used but most adult SC are prespecialised mulitpotent
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embryonic research
at blastocyst stage of development ICM transferred to culture dish with nutrient solution subcultured to make stem cell line therapeutic cloning: patents cell but in fertilised egg with no nucleus -> develops into blastocyst -> clone
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developing foetus
3cm to 50cm 4g to 3400g month 3: sex distinguishable and forelimbs well developed month 4: arms and hands full shaped, Skelton completed, exercising of muscles evident month 5: fine hair covers body, gripping reflexes develop, movement detected month 6: respiratory movements, tooth buds evident, digestive glands begin to function month 7: all systems functional expert respiratory month 8: accumulation of fat beneath skin month 9: eyes open, nose well formed, sucking and grasping reflexes apparent and fine body hair shed shortly before birth: foetus rests head inside curved shape of pelvis, movement restricted and placenta starts to fail and become fibrous antibodies diffuse through placenta
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pregnant mother
due to growing abdomen, other organs are forced up and out enlargement of breasts: hormones result in development of milk secreting tissues increase in heart size and blood volume increase blood flow to kidney and urine production, pressure on bladder mothers functions slow down to allow nutrients to stay in blood for longer weight gain: hormonal changes promote conversion of energy to fat and retention of water
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maintaining healthy pregnancy
need to increase energy intake, calcium, iron, folic acid fluoride helps protect against future dental problems exercise to maintain stamina during labour progestin to insure full term pregnancy
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disruptions to foetal development
congenital disorder: present at birth (mutation or inherited gene) teratogenic agent: cause physical defect in embryo
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infection (FD)
rubella: viral infection. if contracted by mother, child may be born deaf, blind or with heart malformations
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maternal diet
folic acid: essential for normal cell division and manufacture of protein. 1 month before and 3 months lack can lead to spina bifida: bony arch or vertebrae around spinal cord doesn't develop calcium: bone growth vitamin A: normal cell growth listeriosis: eating food contaminated by listeria monocytogenes. cause miscarriages or still birth eat freshly prepared food and avoid soft cheeses, seafood, pate and pre package salads
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alcohol
FAS: effects of feta exposure to exessive alcohol intake slow growth narrow eye slits and sunken nose bridge heart defects mental retardation, slow attention span
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smoking
lower birth weight increased risk of abortion breast feeding: gastrointestinal problems and respiratory problems (bronchitis, pneumonia) increased risk of SIDS
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thalidomide
limb malformations between day 28 and 42 when limbs are coming affects arms more than legs
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ultrasound
inaudible high frequency sound waves to make foetus image sound waves reflected by foetal tissue to obtain a visual echo detects: brain, head, limbs malformations and spina bifida
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fetoscopy
small telescope introduced through abdominal wall | examine appearance
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chromosomal analysis
using karyotype to see if any chromosomal disorders are present amniocentesis: 16-20 weeks when there is 130ml of fluid. removes 10-20ml of amniotic fluid and takes floating foetal cells. spina bifida chorionic villus sampling: obtain specimen of foetal cells from chorion. 9-19 weeks and tested quickly. 2% miscarriage mother blood: simpler sample treated with special antibodies that adhere only to fetal cells in mother's sample magnetic beads isolate from other cells
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foetal blood sampling
foetal blood directly obtained and quicker results | PUBS: foetal blood extracted from umbilical vein using thin needle through abdominal wall
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foetal monitoring
regular recording of baby's heart to detect stress | ECG: identify risk of injury to foetus and check if chance of o2 deficiency
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biochemical analysis
assessment of marker proteins. PKU: increased amounts of phenylalanine in blood or phenylpyruvic acid in urine AFP in amniotic fluid = spinal cord malformation
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DNA probes
DMD and thalassaemia segment of DNA identical to tested gene, some units in segment are labelled. DNA probe joins with gene being tested: if gene is normal probe joins with gene that is structurally identical and shows up if abnormal gene doesn't show up. gap in DNA being tested
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infertility treatment | AID
spem donated risk of transmission each day of ovulation (3-4) 3 inseminaton /month for 3 month
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ART
IVF: implantation of fertilised egg GIFT: gametes mixed and before they fertilised it is transferred to fallopian tubes ICSI: low sperm count, single sperm injected into egg. embryo implants din uterus 20-30% donor egg: unable to conceive own eggs. fertilised egg implanted surrogacy: unable to be pregnant
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before labour
several hormonal changes cause pelvic ligaments soften to become more pliable for childbirth, also increase response of uterus to stimulus and strengthen contractions of muscle foetus settled with head in mothers pelvis cervix softens, shorter in length, likely to open a little foetus usually faces woman r/l hipbone with its knees drawn up to abdomen (takes up minimal room) one side of head against bowel, other against bladder
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1st stage of labour
during final 3 months of gestation, uterus has weak irregular contractions, stronger during final weeks, eventually become occur every 30 minutes start of labour to completion of cervix dilation foetus moves deeper into pelvis waves of contraction travel from upper uterus to cervix (like peristalsis) with each contraction, uterus muscle fibres shorten and pull on cervix causing it to shorten so it no longer projects into vagina as contractions become more frequent and stronger, foetus head pushed more against dilated cervix fully dilate = 10cm, uterus cervix and vagina become one curved passage (birth canal) foetus passes with help of uterus contractions and voluntary abdominal contractions from mother
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2nd stage of labour
expulsion stage usually begins with bursting of membrane surrounding foetus leading to gush of fluid from vagina (can happen earlier) 20 minutes to 2 hours as foetus moves through canal it head stretches vagina distention of vagina forces woman to push. contractions of uterus and mother push foetus through vagina and baby's head turn to face mother's back each contraction pushes baby through head moves to external vaginal opening and stretches opening and tissues between it and anus head forced out, once head emerges, it turns sideways to face mothers hips, the rotation allows for easy movement head is downward for 90% of births and acts as a wedge to force open cervix vagina and allows baby to begin breathing before completely out as foetus is pushed out, pressure on head may cause it to be pushed out of shape, doesn't damage brain and resumes normal shape sutures of skull are pliable and allow for some overlap
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3rd stage of labour
baby breathes even though it is connected to placenta amnion chorion and placenta are still inside umbilical cord clamped and tied between two places and cut between ties arteries and vein contract before and after cut, after a few days cord dries and falls away (navel) at birth: baby is covered in vernix which is a protective layer. thin layer kept as it decreases risk of skin infection after 5 minutes uterus contracts and placenta, other membrane and part of umbilical cord are expelled in the afterbirth little blood loss: placental blood vessels constrict and uterus contractions squeeze shut uterine vessels tats apply blood to placenta blood clots form to stop leakage *risk of infection
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new born infant
head is 1/4 length, legs 1/3 held vertically: head drops and legs hang because muscle control hasn't developed reflexes govern most of movement
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changes in baby at birth
infant must become self supporting as foetus: blood return to foetus via umbilical vein some blood flows through liver and IVC. remainder bypasses liver by flowing through DUCTUS VENOSUS then into IVC blood returning to foetal heat enters right atrium then... 1. right ventricle to lung but lungs arrest functioning and offer resistance so little blood flows that way 2. through DUCTUS ARTERIOSUS to aorta. lung bypass that allows blood in pulmonary artery to flow directly to aorta 3. into left atria through oval opening between chambers, FORAMEN OVALE, beneficial because placental blood is rich in oxygen and flows to developing foetal tissues via aorta quickly at birth: 1. DUCTUS ARTERIOSUS: the first breath stimulates respiratory system to function so it doesn't show resistance to blood flow, so little blood flows through the DA. DA degenerates to fibrous tissue 2. as more flood return to heart through lungs, pressure in left atrium increase so the flap of the FORAMEN OVALE is permanently forced closed against atrial wall if FO is still open surgery must be performed 3. cutting umbilical cord means that no blood flows through the umbilicus vessels or DUCTUS VENOSUS so it gradually constricts til closed. liver bypass I lost so it must start functioning initially breathing and heart rate is high because more o2 is needed for increased muscular activity and thermoregulation
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changes in mother after childbirth
puerperium:uterus returning to no pregnant state (8 wks) painless contractions and non abdominal swelling shrinking from contractions and gradual shrivelling of muscle fibres which flatten abdomen discharge of fluid: blood and breakdown products of tissues that is discharged as uterus shrinks decrease in blood volume, slower pulse, higher temp day 3 depression if mother breast feeds, menstruation delayed for 6 months not breast feeding around 10 weeks
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breast structure
breast contains 16-25 sections called lobes which are divided into lobules, walls of each lobule made of glandular alveoli (milk secreting region) lobes and lobules surrounded by fatty connective tissue from lobule, ducts open into wide spaces (milk space) reservoir for milk made by the alveoli from each space short straight duct leads to the nipples, 15-25 openings on nipple as each lobe has its own milk space
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lactation
lactation: initiation and maintenance of milk secretion and delivery of milk to baby early in pregnancy increase in hormones cause more complex and large lobes and oil secreting glands around nipple to enlarge a day or 2 after milk secretion 1st secretion colostrum (watery yellowish white fluid) little to no fat, high in mother's antibodies that give baby temporary immunity once nipple is sucked, milk let down reflex triggered 1. nipple sucked, nerves in nipples stimulated and sent to brain 2. posterior part of pituitary gland releases oxytocin in blood 3. causes tiny muscles around lobules to squeeze milk into nipple openings
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physical development at infancy
legs grow rapidly | head and face grows slowly than body as a whole
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genetic counselling
examining incidence of disorder in pedigree
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genetic profiling techniques
identify genetic makeup, fingerprint special enzymes: DNA cut at specific base sequence leaving pieces of various lengths. length varies each person gel electrophoresis: 1. DNA placed in bed of semisolid gel 2. electrical currents pass through gel via electrode at each end 3. negatively charged DNA moves towards positive electrode 4. smaller DNA moves faster, resulting in a banding pattern marker: segment of DNA with known characteristics used as point of comparison. more that match =closer relation
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variation sources in genetics
random assortment: when two gametes unite at fertilisation, resulting cell has different combination of genes. 1st meiotic division homologous chromosomes separate at random, not influenced by other. 2^23 each egg crossing over: during prophase of meiosis 1 sections of DNA exchanged cross at chiasma chromatids become tangles. pieces break off, swap and reattach different alley combination (recombination) non disjunction: when homologous chromosomes or chromatid pair fail to separate. one cell has too many, other has too few/ dramatic birth defects partial trisomy: extra chromosome attached to other chromosome random fertilisation: fertilisation is a random event, any sperm with any egg epigenetic and inheritance:
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huntingtons
``` autosomal dominant lack of control over muscles, progressive mental deterioration symptoms appear 30-40 involuntary flying of arms and legs dementia hard making voluntary movements ```
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achondroplasia
autosomal dominant dwarfism short limbs, prominent head, waddling gait
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faciosacpulohumeral muscular dystrophy
autosomal dominant affects facial muscle other gradually affected
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neurofibromatosis
``` autosomal dominant numerous tumours along peripheral nerves composed of dense proliferation fo nervous and fibrous tissue cause abnormalities of skin + flesh distortions to bone structure ```
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thalassaemia
autosomal recessive | anaemia from defects in formation of HGB
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PKU
autosomal recessive controls production of enzyme (phenylalanine hydroxylase) that turn phenylalanine to tyrosin phenylalanine build up in blood and is toxic (mental retardation, seizures and not normal skin pigmentation ) special diet required
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cystic fibrosis
autosomal recessive chest infections, lack of digestive enzymes, increased salt loss diet: low fat, high carb + protein
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sickle cell anaemia
autosomal codominant abnormal HGB, RBC misshapen and blood can't carry normal o2 levels Heterozygous: normal RBC unless there is a low concentration of o2 in blood. malaria resistant
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tay-sachs disease
autosomal recessive disorder of lipid metabolism missing enzyme which leads to accumulation of fatty substance in nervous system death early in childhood
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haemophilia
X linked recessive | blood clots slowly or not at all
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diabetes insipidus
X linked recessive kidneys unable to concentrate urine passes large quantities of urine death if water needs aren't met
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Duchenne Muscular dystrophy
X linked recessive progressive wasting of voluntary muscles muscle tissue wastes away and replaced by fatty substances wheelchair to bedridden to respiratory failure