Glossary

Glossary

Acetylcholinesterase – breaks down acetylcholine the neurotransmitter at parasympathetic nerve junctions
Achylia – absence of secretion
Acinar tissue – small sac or cavity surrounded by secretory cells of a gland
Adeno-associated virus – a small virus which infects humans and some other primate species. AAV is not currently known to cause disease and consequently the virus causes a very mild immune response.
Adenosine triphosphate – (ATP) a compound containing adenine, ribose and three phosphate groups which stores energy in the cells for when needed
Adenovirus – a virus used in modified form to transport genetic material into living cells
Aerosol – suspension of very small liquid or solid particles
Aetiology/etiology – the cause of a disease
Agenesis – absence of an organ usually due to failure of development

Airirway surface liquid (ASL) – a thin film of liquid that lines the airways

Alelectasis – failure of part of the lung to expand
Alpha 1 antitrypsin – a protein produced in the liver that inhibits trypsin
Alveoli – the smallest air sacs in the lungs
Amiloride – diuretic that causes increased excretion of sodium and chloride
Aminoglycosides – group of antibiotics widely used in CF as active against P. aeruginosa and other bacteria
Amylase – an enzyme in saliva and pancreas that breaks down starch
Anabolic steroids – synthetic male sex hormones that promote weight gain
Antibiotic – a substance derived from microorganisms that destroys or inhibits the growth of other microorganisms
Antigen – substance against which the body produces antibodies

Antioxidant – a chemical that reduces oxidation and damage within tissues
Aspergillosis – infection by the fungus Aspergillus fumigatus
Atheroma – degeneration of the walls of the arteries
Atretic – congenital absence or narrowing of a body opening such as bile duct or pancreatic duct
Aureomycin – (chlortetracycline) one of the first wide spectrum antibiotics
Autonomic nerves – nerves involved in involuntary functions of the body
Autopsy – (also necropsy, post mortem) dissection and examination of the body after death

Autophagy – A normal process in cell develpment involving breakdown of cellular material

Azithromycin – a macrolide antibiotic which benefits patients with chronic P. aeruginosa infection possibly for immunological reasons
Bacteriology – the science of studying bacteria; a branch of microbiology
Bile acids/salts – present in bile for the emulsification of fats in the bowel
Biliary atresia – congential maldevelopment of the bile duct

Biofilm – A community of microorganisms attached to a solid surface
Bronchial lability – tendency for the bronchial tubes to vary their calibre as in asthma
Bronchiectasis – a widening of the bronchi usually due to damage by infection
Bronchiolectasis – a widening of the bronchioles – the small airways that do not contain cartilage
Bronchorrhoea – excess secretion into the airways
Bronchoscopy – examination of the trachea and bronchial tree with either a metal or fibreoptic instrument
Bronchospasm – constriction and narrowing of the airways due to muscular contraction

Burkholderia cepacia complex – bacteria found in soil and other items such as rotten onions. Organisms in the group (e.g. Burkholderia cenocepacia) may cause serious illness in people with CF
Cachexia – abnormal weight loss and weakness associated with serious illness
Candida albicans – a fungus
Capillary – an extremely narrow blood vessel
Carotene – a yellow pigment that can be converted into vitamin A
Casein – a milk protein
Choroid plexus – a plexus of blood vessels within the brain
Chylomicrons – microscopic particles of fat
Chymotrypsin – an gastrointestinal enzyme that digest protein
Cilia – microscopic hairs on the surface of cells ling the airways
Cimetidine – drug used to reduce stomach acid
Cirrhosis – fibrous change in the liver in response to various injuries such as infection, alcohol or obstruction of bile flow
Cochrane Collaboration – International not-for-profit organisation preparing, maintaining and promoting the accessibility of systematic reviews of the effects of health care.
Coeliac disease – malabsorption of food due to damage to the lining of the small intestine caused by foods containing gluten
Colistin – an antibiotic active against P. aeruginosa
Colonisation – when applied to bacteria indicates presence of organism in or on an individual but not yet invading the tissues or causing illness
Compressor – electric pump used to power nebuliser for delivery of aerosolised drugs
Congenital – present from birth
Cor pulmonale – failure of the right side of the heart

Corrector molecules – small molecules that rescue misfolded CFTR (e.g.dF508) and transport it to the cell surface
Cornea – the transparent front of the eyeball
Creatinuria – an excess of the nitrogenous product creatine in the urine

Cystic fibrosis conductance regulator (CFTR) -A gene that encodes for a protein called CFTR that is a chloride channel found in the membrane of airway cells; also involved in the regulation of water and other ions
Dehydration – deficiency of water in the body tissues
Deoxyribonuclease – enzyme that splits deoxyribonucleic acid
Deoxyribonucleic acid – genetic material of nearly all living organisms
Desquamate – loss of the outer layer of the skin
Diabetes mellitus – disorder where sugars cannot be utilised due lack of the hormone insulin which is produced by the islets of Langerhans in the pancreas
Disaccharidases – enzymes in the intestinal cells that digests sugars
Diuretic – drug that increases the production of urine
Domino transplantation- the heart of the CF recipient of a heart-lung transplant is donated to another patient who requires a heart transplant
Duodenum – the first part of the upper small bowel into which the pancreatic and bile ducts enter
Dyskinesia – interference with normal movement
Eccrine – describing sweat glands distributed all over the body
Elastin – protein forming elastic tissue fibres
ELISA – ‘enzyme linked immunosorbent assay’ – a sensitive method for measuring very small amounts of a substance (ELISA test)
Emphysema – air in the tissues (surgical emphysema). In the lungs the air sacs are enlarged due to obstruction of the airways (pulmonary emphysema)
Enzyme – a protein that in small quantities speeds up biological reactions
Eosinophil – a white blood cell often associated with allergies
Epinephrine – drug which causes relief of bronchial spasm (asthma)
Epithelium – outer layer of body tissues and lining of hollow structures

Exacerbation – an increase in severity of a condition usually used to imply a worsening of the state of the chest in CF.A Reductionin the number of exacerbations is increasingly used as a measure of success of a particular treatment.
Exocrine – gland that discharges to the exterior by means of a duct
Faecal fat – fat which is present in the faeces – normally less than 5 gm per day in adults
Faecal pancreatic elastase 1 – pancreatic elastase-1 is a specific human protease synthesised by the acinar cells of the pancreas; faecal values used to determine pancreatic function
Faeces/feces – waste material that is eliminated via the anus
Fatty acids – fundamental constituents of many important lipids. Fat contains two or more fatty acids
Faecal caloprotectin – a calcium-binding protein that is a sensitive but non-specific marker of intestinal inflammation
Ferritin – a complex of a protein and iron
Fibroblasts – a cell in connective tissue
Fibromatosis – presence of fibrous tissue in an organ
Fludrocortisone – a steroid affecting mineral metabolism

Gene – a piece of DNA that contains all the necessary information for synthesis of a protien
Genome – the total genetic material of the organism
Genotype – genetic constitution up of an individual
Gestation – the period between fertilisation of an egg and birth
Glucagon – hormone produced by the pancreas that causes an increase in blood sugar
Glutathione – a peptide containing the amino acids glutamic acid, cysteine and glycine
Gluten – component of wheat that causes coeliac disease
Glycogen – a carbohydrate consisting of glucose units
Glycosuria – the presence of glucose in the urine
Goitre – enlargement of the thyroid gland
Guanethidine – a drug used to treat high blood pressure
Haemolysis – a break down of the red blood corpuscles causing anaemia
Haemolytic disease – a disease associated with haemolysis
Haemoptysis – the coughing up of blood
Heterozygote – a healthy person carrying one abnormal gene i.e. a “carrier” of an inherited condition such as cystic fibrosis
Heubner-Herter disease – an old description of wasting and intestinal malabsorption in young children
Histology – examination of tissue under the microscope
Homozygote – a person with two copies of an abnormal gene i.e. a person with cystic fibrosis
Hydrolase – an enzyme that hydrolyses or breaks down protein to a hydrolysate
Hyperpyrexia – an excessively high body temperature above 106º C
Hypertrophic pulmonary osteoarthropathy – swelling and new bony tissues in people with chronic chest disorders
Hypoglycaemia – an abnormally low level of glucose in the blood
Hypogonadism – impaired function of the testes or ovaries causing absence or impairment of the secondary sex characteristics
Hypoproteinaemia – a low level of protein in the blood
Hypothyroidism – a condition caused by inadequate thyroid hormone
Ibuprofen – non-steroidal anti-inflammatory drug used in CF to suppress lung inflammation
Idiopathic – without identifiable cause
Ileostomy – a surgically-created hole between the ileum (lower small intestine) and the exterior
Ileum – the lower part of the small intestine
Immunoelectrophoresis – a technique for identifying antigenic fractions in a serum
Immunoglobulins – a group of proteins that act as antibodies
Indomethacin – a non-steroidal anti-inflammatory drug
Infantilism – persistence of childlike characteristics into adult life

Inflammation – A protective response after injury or destruction of tissue
Inspissated – dried and hardened
Intracranial hypertension – increase in pressure within the skull
Intubation – insertion of a tube into the airways
Intussusception – the telescoping of one part of the bowel into another lower part

Ion – An atom or radical a charge of positive or negative elctricity resulting from loss or gain of one or more electrons
Iontophoresis – technique of introducing through the skin by means of a small electric current charged particles of a drug e.g. pilocarpine to stimulate sweating for the sweat test.
Isles of Langerhans – small islands of tissue in the pancreas that secrete insulin
Isoelectric focussing – a technique of separating different molecules by their electric charge difference
Isotope – different forms of an element. Radioactive isotopes are other forms of the element emitting radioactivity which can be measured
Jejunal biopsy – obtaining tiny pieces of the lining of the upper bowel, to examine by microscope, using either a small biopsy capsule or the fibreoptic endoscope
Kasai operation – joining of the small bowel to the cut underside of the liver to treat congenital atresia of the bile ducts
Keratinisation – cells become hard due to the deposition of keratin
Keratomalacia – progressive nutritional disease of the cornea of the eye due to lack of vitamin A
Kwashiorkor – a form of malnutrition due to a diet deficient in protein and energy producing foods
Kyphosis – a forward curvature of the spine
Laparotomy – a surgical incision into the abdominal cavity
Lectin – sugar-binding proteins which are highly specific for their sugar moieties.
Leukocyte – white blood cell
Linoleic acid – an essential fatty acid
Lipase – enzyme that digests fat
Liposomes – a microscopic vesicle made in the laboratory by addition of an aqueous solution to a phospholipid gel. Used to transport genetic material into cells
Macrolides – a family of antibiotics including erythromycin and azithromycin

macrophage – a large immune cell that protects the tissues
Macula – sensitive area at the back of the eye
Malabsorption – failure to absorb – usually in reference to the contents of the bowel – “intestinal malabsorption”
Marasmus – severe wasting in infancy

Mast cells – Immune cells that release histamine as part of an immune response
Meconium – first content of the bowel passed by a newborn infant

Meconium ileus – intestinal obstruction in a newborn with CF due to inspissated meconium
Medline – an electronic source of most medical and scientific references – contains over 30,000 references to CF
Melioidosis – a disease of wild rodents transmissible to man and causing often fatal septicaemia, pneumonia and abscesses
Mendel – Gregor Mendel, a Moravian monk, who showed that many body characteristics were inherited by genes
Metaplasia – abnormal change in the nature of a tissue
Microbiologist – person who studies microorganisms
Monotherapy – using only one drug when two is an option
Mucolytic – a substance or technique that makes mucus less viscous
Mucopolysaccharides – complex carbohydrates found in connective tissue
Mucoviscidosis – term for CF used by a pathologist, Sydney Farber, to indicate that CF involved abnormal secretions in many organs

Mucus – a slimy substance secreted by mucous membranes. Mucous – relating to mucus

Mutation – an inhertiable change in DNA sequence
Mycobacterium – bacterium of the same group as that causing tuberculosis. Atypical mycobacteria are frequently cultured from the airways of people with CF
N-acetylcysteine – a drug used to breakdown thick mucus; also a source of glutathione
Nasal potential difference – electrical potential across the lining of the nose or airways; is abnormal in people with CF
Nebuliser – an instrument used for supplying a liquid in the form of a fine mist usually for inhalation
Necropsy – autopsy or post mortem
Necrosis – loss of function and death of cells
Nephrolithiasis – stones in the kidney

Neutrophils – the most abundant form of white blood cell
Nonsense mutation – a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon, in the transcribed mRNA, and so in a truncated, incomplete, and usually nonfunctional protein product
Nursling – a baby that is being breast fed
Occidental – relating to the countries of the west
Oedema/edema – excessive accumulation of fluid in the tissues
Oesophageal pH tracings – recording of the acidity at the lower end of the food pipe using a fine probe to determine the presence of acid reflux
Optic neuritis – inflammation of the optic nerve causing impaired vision
Organelles – structures within a cell which have special function e.g. the nucleus
Osmolality – concentration of a solution expressed as the total number of solute particles per kilogram
Osmolarity – concentration of a solution expressed as the number of solute particles per litre
Osteoporosis – loss of bony tissue resulting in brittle bones
Ototoxic – damaging to the hearing
Paediatrician/Pediatrician – doctor who specialises in diseases of children
Pancreas – a gland that lies behind the stomach that secretes bicarbonate and digestive enzymes into the upper bowel and insulin into the blood
Pancrease – the first acid-resistant microsphere preparation of digestive enzymes for enzyme replacement therapy
Pancreatic sufficient – person with sufficient remaining pancreatic function to achieve normal fat absorption
Pancreozymin – enzyme that stimulates pancreas to secrete
Parenchyma – tissue of an organ

Pathogen – a microbe that causes disease
Pathogenesis – cause of a condition
Peptide – a molecule containing two or more amino acids
Pericardium – membrane covering the heart
Peristalsis – rhythmical movement of the bowel or hollow organ to propel the contents forward
Peritonitis – inflammation of the coverings of the abdominal contents
Pertussis – whooping cough
Pharmokinetics – the handling of a drug within the body
Phenotype – observable characteristics of an individual resulting from the interaction of its genotype with the environment
Phimosis – excessive tightness of the penile foreskin
Physiologist – scientist who studies the function of the body
Plasmid – a genetic structure in the cell that can replicate independently of the chromosomes – typically a small circular strand of DNA – used in the manipulation of genes
Pneumonectomy – surgical removal of a lung
Pneumothorax – abnormal presence of air in the chest cavity between the chest wall and the lung surface
Polymorphic – a condition in which a chromosome or a genetic character occurs in more than one form
Polyp – a growth usually benign protruding from a mucous membrane – such as the lining of the nose or bowel
Portal hypertension – increased back pressure in the veins leading to the liver due to liver damage

Potentiator – small molecules that improve the activity of CFTR in the cell memberane
Precipitin – any antibody that combines with an antigen
Preimplantation genetic diagnosis – a single cell, removed from the developing embryo at the 6-10 cell stage, is examined for genetic abnormalities
Prostaglandins – hormone-like substance present in many tissues and body fluids
Proteolytic – digests protein
Pseudomonas aeruginosa – a major cause of chronic chest infection in CF
PubMed – a major database of medical and scientific publications
Pulsed field gel electrophoresis – used to separate fragments of DNA using timed current from two angles to minimise diffusion of molecules
Purpura – a rash due to bleeding into the skin
Recombinant – rearranged referring to genetic material
Restriction enzyme – obtained from bacteria that cuts DNA into specific short segments
Rheology – study of the deformation and flow of matter – in CF particularly relating to sputum
Rickets – a disease of bones due to shortage of vitamin D
Right iliac fossa – lower right part of the abdomen
Roentgen – X-rays
Sclerosis – hardening
Scoliosis – a lateral curvature of the spine
Seborrhoea – greasy skin due to excessive secretion of the sebaceous glands
Secretin – a hormone that stimulates pancreatic secretion
Shwachman-Diamond syndrome- a condition with pancreatic malabsorption and blood abnormalities
Situs invertus – major organs on the wrong side of the body
Spermatogenesis – the production of sperms
Spirometer – an instrument for measuring the amount of air inhaled and exhaled
Squamous – relating to the skin
Staphylococcus aureus – common germ that infects airways of people with CF
Steatorrhoea – presence of excessive fat in the stools
Steatosis – infiltration of the liver cells with fat
Stem cells – a cell which is able to produce many other different types of cell
Stoma – an opening into a hollow organ
Stool – a portion of waste passed from the anus
Subdural bleed – bleeding below the dura mater – the outermost covering of the brain
Substrate – substance that an enzyme digests
Sudan – a dye used to stain tissues for examination
Sulphonamides – anti-bacterial drugs
Terramycin – antibiotic
Tertiary referral service – a specialist service to which other hospital consultants refer patients
Thrombus/thrombi – clot/s of blood in blood vessels
Tolbutamide – an oral drug that lowers the blood glucose level
Trachea – main wind pipe
Trypsin – pancreatic enzyme that digests protein
Unique strain – when applied to Pseudomonas indicates a strain only found in that patient – presumably not acquired from another patient
Ursodeoxycholic acid – drug used to dissolve cholesterol gall stones and improve liver function in CF
Vas deferens – tube that carries sperm from the testis to the penis
Villus/villi – short finger-like processes which project from some membranous surfaces such as the small intestine. Villous – adjective used to describe a condition affecting the villi e.g. villous atrophy
Virilisation – developing male characteristic
Viscous – thick and sticky
Viscus – an organ
Vitalograph – a simple respiratory function machine initially a bellows design and later a more compact electronic model; measures the main features of the respiratory function – the FVC (forced vital capacity), the FEV1 (amount of air expelled in one second), the FEF 25-75 (the air expelled in the middle of the “blow”)
Wirsung’s duct – the main duct from the pancreas to the upper intestine
Xerosis – abnormal dryness of the cornea of the eye