Cystic Fibrosis
what is cystic fibrosis?
effects
genetic dissorder
lungs
Cystic #
causes cysts on the pancreas
cysts are fluid filled sacs
Fibrosis
excess connective tissue
AUTOSOMAL RECESSIVE dissorder
CFTR gene
Cystic Fibrosis Transmembrane Conductance Regulator
CFTR protein
need to inherit two of the faulty CFTR gene #
a CHANNEL PROTEIN that pumps chloride ions into secretions, drawing water into the secretions, thinning them out
most common mutation is deltaF508 Mutation
where the 508th amino acid out of 1480 phenylalanine is DELEATED
alters the folding of the protein so the protein cannot be transported from the ER to the plasma membrane
causing a LACK OF CFTR proteins at the plasma membrane so secretions are left too thick #
pancreas
newborns
thick secretions effect the meconium (first stool)
early childhood
most common symptom is pancreatic insufficiency
digestive enzymes can't get to the intestines #
proteins and fat are not absorbed #
thick secretions block pancreatic ducts #
causing damage to the pancreas by pancreatic enzymes
malabsorption can lead to POOR GROWTH and STEATORHEA (fatty stools) #
development of cysts and fibrosis
insulin dependent DIABETES
causing it to get thick and sticky which may cause it to get stuck in the intestine (Meconium Ileus)
later in childhood
mucociliary reaction becomes defective due to thickness of mucous, leading to a build up of bacteria
CF exacerbation
when bacteria builds up causing symptoms such as a COUGH and can show changes on a CHEST X-RAY
treat with antibiotics
ANTIBIOTIC RESISTANT BACTERIA... no treatment
chronic bacterial infection
inflammation
bronchiectasis
brochi wall damage
permanent wall damage
HAEMOTOSIS
repeated CF exacerbations
RESPIRATORY FAILURE
leading cause of death with CF
INFERTILITY in men as the tubes that link the testes to the urethra are blocked (lack the vas deferens)
digital clubbing (rounded finger nails)
nasal polyps (growth of additional tissue in the nose)
ABPA (Bronchopulmonary Aspergillosus) a hypersensitivity reaction to fungus that can live in sinuses and lung cavities
how are ions transported?
ion channels
DIFFUSE down their concentration gradient
highly sensitive to the type of ion
can be gated or non-gated
non-gated - e.g. K+ channels in neurons
voltage gated - e.g. Cl- channels in neurons
ligand gated - e.g. acetylcholine receptors in neurones
carrier proteins
uniporters - move one molecule at a time by FACILITATED DIFFUSION
symporters - transports two molecules in the same direction using SECONDARY ACTIVE TRANSPORT also called CO-TRANSPORT
antiporters - transport one molecule in one direction whilst also transporting another molecule in the opposite direction using SECONDARY ACTIVE TRANSPORT also called CO-TRANSPORT
ion pumps
use PRIMARY ACTIVE TRANSPORT and the energy received by hydrolysing ATP
P-class
transports all ions
form a phosphoprotein intermediate
V-class
only transport protons
used to maintain low pH in lysosomes
e.g. Na/K pump in nurones
F-class pumps
only transport protons
transports protons DOWN THEIR ELECTOCHEMICAL GRADIENT to synthesis ATP
ABC
can transport ions, polysaccharides and proteins
found in eukaryotic and prokaryotic organisms
e.g. CFTR pump in the membrane of epithelial cells
how is mucous formed?
BSS
role of the pancreas as an exocrine gland
symptoms of CF #
treatments
what is bacteria and how do we kill it?
developmental milestones
how to measure a child's intelligence
play
impact of chronic illness on the family
Erikson's theory
Paiget's theory
mucous is formed in goblet cells found in the epithelium 
they are cup shaped because of the mucin granulae that fill up the cytoplasm
the secretion of mucins can occur in two ways
regulated vesicle secretion
compound exocytosis
single vesicles fuse with the membrane and release their contents. this is regulated by the ordinary regulators for vesicular secretion (SNAP proteins and Syntaxins)
most vesicles within the goblet cell fuse and empty their contents at once
both require ATP and are a form of ACTIVE TRANSPORT
this can be stimulated by changing levels of intracellular Ca2+ or the presence of it's mobilising agents (e.g. histamine and acetylcholine, of which acetylcholine is the most potent)
pancreatic enzyme supplement
inhalers
airway clearance
inflatable vibrating vests
chest physio
taken at every meal
usually take multivitamins to
to open airway or thin mucous
can include antibiotics
salty-tasting skin
coughing (sometimes with phlegm)
frequent lung infections
pneumonia
bronchitis
wheezing
shortness of breath
poor growth/weight gain
difficulty with bowel movements
male infertility
Burkholderia cepacia
Pseudomonas aeruginosa
Staphylococcus aureus
the first pathogen to infect airways of CF patients
can cause epithelial damage
can be treated with antibiotics
Methicillin-resistant Staphylococcus aureus
MRSA
multiresistance to many antibiotics
colonises more than 50% of CF patients
part of normal microbial population of respiratory tract
infects second, due to damage to epithelial cells
possible indirect transmission by kissing and sexual contact
very resistant t o antibiotic therapy
cognitive development is associated with biological maturation
active interaction with environment
not about the amount of learning, more about quality
opportunity to interact with the environment and manipulate objects
cognitive restructuring
meta-representations
social rule development
stage theory
sensory-motor
pre-operational
concrete operational
formal operational
3 months - facial recognition
7.5 months - stranger anxiety
12 months - first words
18 months - short sentences
start to comprehend symbols
egocentric
mimicry
a little understanding of other views
more ability to recognise other views
basic grasp on ordering an classification
abstract thought
draw conclusions
logical thinking
social decisions
different strategies
impulse control
embarrassment
trust vs mistrust (0-18months)
autonomy vs shame and doubt (18months-3)
initiative vs guilt (3-5)
industry (competence) vs inferiority (5-12)
identity vs role confusion (12-18)
intimacy vs isolation (18-40)
generativity vs stagnation (40-65)
ego integrity vs despair (65+)
IQ comes form the comparison of mental age and chronological age
ability to
perform mental operations
pay attention
remember
communicate
Wechsler Intelligence Scale for Children
originally developed in 1974
measures general inteligence, verbal intelligence and perfomance intelligence
stress
time
worry
centred around ill child
high demand on parents
less attention for other children
digestive enzymes
bicarbonate
proteases
trypsin
chymotrypsin
released into lumen of the small intestine then converted into active forms
digest proteins and peptides
pancreatic lipase
delivered into the gut as a constituent of pancreatic juice
combines with bile salts to digest dietary triglycerides, fatty acids and monoglyceride
amylase
hydrolyses starch to maltose
ribonuclease
deoxyribonuclease
gelatinase
elastase
a base
critical for altering the pH of the digestive fluid coming from the acidic stomach to the alkaline small intestine