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Adenotonsillectomy: Surgical removal of the adenoid and tonslis.

Anabolism: All of the metabolic processes that build biomolecules.

Anthropometric measurements: Systematic measurements of the size, shape and composition of the body. Some common methods used to gather these measurements are BMI, waist-to-hip ratio, skin-fold test and bioelectrical impedance.

Apoptosis: genetically regulated form of cell death. It is controlled and necessary for certain biological purposes [1].

Aptamers: Small nucleic acid molecules (20 to 60 DNA or RNA nucleotides) which bind with high specificity to a specific protein or organic molecule [2].

Arm (in a clinical trial): A group or subgroup of participants in a clinical trial that receive a specific intervention (or none), according to the study protocol [3].

Autophagy: from the Greek "eating of self" - It's a process of self-degradation used by cells for balancing sources of energy during development and nutrient stress, as well as in removing "broken" (misfolded or aggregated) proteins, organelles and pathogens. It's an important survival mechanism [4].


Base pair (bp): a set of two nucleotides of different DNA or RNA strands that are bound to each other. Adenine always binds with Thymine (Uracil in RNA) and Guanine with Cytosine.

Biomarkers: Biomarkers are indicators used in medical research to measure biological processes, disease processes, and responses to treatment. The use of biomarkers can improve the process of medicines development and help tailor treatments to individuals. [5]

Bone turnover - Total volume of bone that is resorbed and formed over a period of time, usually expressed as percent/year. It can be estimated by measuring relevant bone biomarkers [6].

Bone remodeling - It's a dynamic physiological event and active process throughout the skeleton, essential for calcium homeostasis and preserving the integrity of the skeleton, through the coupled activity of osteoclasts and osteoblasts [7]. In adults, bone turnover occurs mainly through bone remodeling [8].

Brachydactyly: Brachys - short; dactyly - relating to fingers. Short fingers.


C-type Natriuretic Peptide (CNP): It's a naturally occuring peptide (small sequence of aminoacids, which comprise proteins) in the human body, which binds to the Natriuretic-Peptide Receptor B (NPR B) existing on the surface of chondrocytes, in the bone, which induces the synthesis of cyclic guanosine-3′,5′-monophosphate (cGMP) molecules, which, in turn, inhibit the MAPK pathway of FGFR3 (by inhibiting certain enzymes in this pathway). The bottom line is: CNP acts on chondrocytes by binding to NPR B which tells the cell to inhibit certain enzymes in one of the pathways FGFR3 uses to halt growth. By doing this, it prevents FGFR3 from halting growth.

FGFR3 during achondroplasia FGFR3 Signaling and MAPK Inhibition

Catabolism: involves all of the metabolic processes that tear down biomolecules.

Central sleep apnea (CSA): It is a lack of breathing while sleeping. Unlike obstructive sleep apnea, CSA is caused by a lack of respiratory effort, instead of an obstruction in the airways [9].

Chondrocytes: Cells that are responsible for cartilage formation, which is an essential part of endochondral ossification. When the achondroplasia mutation is present, these cells are deregulated, which affects bone growth [10].

Chondrodysplasia: Chondro - cartilage; dysplasia - abnormal development. It is the abnormal development of the cartilage tissue.

Chromosome: A large molecule of DNA that is coiled around specific proteins, called histones, and that contains many genes.

Clonus: A series of involuntary muscular contractions and relaxations.

Cohort: It's any group of people who are linked in some way and followed over time.

Commercial sponsor (of a clinical trial): Organization or individual that is in charge of the clinical trial and holds the data for later commercialization.

Constitutive gene: a gene that is always being expressed, independently of environmental conditions. It is opposed to a regulated (or facultative) gene which is expressed only when the cell is subjected to a certain stimulus [11].

Constitutional short stature: also known as Constitutional delay of growth and puberty, it's a delay in growth that results in a relatively short childhood height, but a relatively normal adult height [12].

Coxa vara: a deformity of the hip where the angle formed between the head and neck of the femur and its shaft (Mikulicz angle) is decreased, usually defined as less than 120 degrees [13].

CPAP device: Continuous Positive Airway Pressure machine. It's a machine used to regulate sleep apnoea by continuously blowing air into the airways, keeping them open and allowing for normal breathing to take place.

Cultured cells: Cells grown outside of a body, under controlled conditions in a laboratory.


Differentiation: Process by which cells become specialized. The more specialized the cell, the less it will be able to change into other cell types. In animals, mature cells' division is often restricted to replacement and repair [14].

Distraction osteogenesis: It is a method of generating new bone following a cut of the bone (often an osteotomy) and gradual distraction (pulling it apart). The gradual bone distraction creates mechanical stimulation which induces biological responses and consequently bone regeneration [15].

Drag: "resistance created by the body moving through the water" [16].

Drug clearance: Is the rate at which the active drug is removed from the body; and for most drugs at steady state, clearance remains constant so that drug input equals drug output [17].

Double-blind: when the patient and the investigator are blind in knowledge. This means that neither the patient nor the investigator know which patients are getting the drug and the which are getting placebo [18].

Dysmorphogenesis: the formation of abnormal tissue.


Endpoint in a clinical trial: The endpoint of a clinical trial is an objective that has to be reached. It is an event or outcome that can be measured objectively to determine whether the intervention being studied is beneficial. It can be the occurrence of a disease or a symptom, or a particular laboratory result. Once someone reaches the endpoint, they are generally excluded from further research in the trial. The endpoints of a clinical trial are usually included in the study objectives.

Enzymes: Proteins with the ability to accelerate biochemical reactions (they are catalysts), transforming a substance (substrate) into another (product) [19].

Et al.: from Latin, et alia, and means "and others".

Eustachian Tubes: Also known as the auditory tubes, they are auditory canals that connect the middle ear to the pharynx [20]. In the next image, you can observe where the Eustachian tube opens (the entrance to auditory tube), in an area in the back of the nasal cavity. The secretions that come from the middle ear through the tube are drained to the esophagus.

800px Blausen 0872 UpperRespiratorySystem 1
Credits: wikipedia.

Extracellular Matrix (ECM): a macromolecule (macro=big) complex composed of proteins (i.e. collagen), hyaluronic acid, and other molecules that modulate the activity of some cells. It serves as a scaffold for cells to deposit and is necessary on the cartilage of growing bones necessary for the development of mineralized bone [21, 22].


Fibroblast: A type of cell that synthesizes (produces) the extracellular matrix (a group of molecules produced by cells that provides structural and biochemical support to the surrounding cells) and collagen, the structural framework for animal tissues, and plays a critical role in wound healing. Fibroblasts are the most common cells of connective tissue in animals.

Financial sponsor (of a clinical trial): Person or organization providing financial support to a study's commercial sponsor.

FGFR3 ach mouse: Mouse models are currently available for genetic research and include thousands of unique inbred strains and genetically engineered mutants [23]. FGFR3 ach mouse model is a mutant strain developed for mice to be born with the achondroplasia mutation, to conduct scientific studies.

Foramen Magnum: Foramen - hole; magnum - large. It's the hole in the occipital bone, through which the spinal cord exits the cranial cavity and connects to the brain. 


Gain-of-function: "A mutation that results in a new functional ability for a protein, detectable at the phenotypic level." A new "functional ability" includes excessive activity, such as what happens with the mutation that causes achondroplasia. In this condition's case, "detection at phenotypic level" is the condition itself [24].

Genome: the set of all of a cell’s genetic information, includes all genes and regulatory sequences.

Genu Varus: it's a physical deformity marked by outward bowing of the lower leg in relation to the thigh. It occurs often in childhood.

Glucose: A sugar used by our body for energy. It can be obtained by breaking down (catabolizing) carbohydrates.

Good Laboratory Practices (GLP): International regulations that must be observed to ensure high quality, experimental standards and reliable data [25].

Grommets: Ventilation tubes inserted into the hearing canal in order to prevent conductive hearing loss.


Half-life (biological, there is also radioactive half-life): the time it takes for half the amount of a given substance to be degraded or excreted from the body.

Health-Related Quality of Life (HRQoL): is a multi-dimensional tool including physical, psychological, functional, and social domains related to a person's perception of quality of life affected by health status.

Health Technology Assessment (HTA): It's a multidisciplinary process that analyses the ways science and technology are used in healthcare and disease prevention, covering medical, social, economic, and ethical issues. It provides policy-makers with objective information, so they can formulate health policies that are safe, effective, patient-focused and cost-effective [26].

Heterozygous: A person is heterozygotic for a given characteristic when the two chromosomes that carry that gene have different variations of the gene. If both chromosomes have the same genetic variation, the individual is homozygotic for that characteristic.

Health outcome: It's what is being examined in a clinical trial. It may be survival, quality of life, time to disease progression, disease-specific mortality, etc. There may be primary outcomes - the main effects - being studied and there may be secondary outcomes which are important but not the main purpose of the trial (in EUPATI).

Homeostasis: processes by which body systems are kept within certain limits.

Homozygous: A person is homozygotic for a given characteristic when the two chromossomes that carry that gene have the same variation of that gene. If both chromosomes have different variations, the individual is heterozygotic for that characteristic.

Hydrocephalus: accumulation of cerebrospinal fluid in the cranium. It can be a disturbance of cerebrospinal fluid (CSF) formation, flow, or absorption, leading to an increase in volume occupied by this fluid in the central nervous system (CNS). Animation here.

Hydrostatic pressure: Pressure exerted by the water upon itself and any body immersed in it. It varies with the depth at which the body is immersed [27].

Hypercholestrolemia: High levels of cholesterol in the blood.

Hyperextension (of joints): Unusually large range of movement [28].

Hypertension: Abnormally high blood pressure.

Hypertrophy: increase in size.

Hypoplasia: The underdevelopment or incomplete development of a tissue or organ.

Hypotonia: hypo - less; tonus - continuous or passive partial contraction of the muscles. Decreased muscle tone [29].

Hypotension: Abnormally low blood pressure [30].


Iliac wings (or ala): part of the pelvic bone.

iliac wing
Lateral view of the iliac bone (pelvic bone) showing the liac wing (ala of ilium).
Credits: Dr. Johannes Sobotta published in Wikipedia.

Incidence: Number of people who contract a disease in a given period of time and in a given community or population [31].

induced Pluripotent Stem Cells (iPS): Reprogrammed adult cells that are able to differentiate into almost every type of cell in the human body [32].

Insulin: Hormone made by the pancreas that allows your body to break down glucose from carbohydrates in the food consumed for energy or to store it for future use. Insulin helps keep your blood sugar level from getting too high (hyperglycemia) or too low (hypoglycemia) [33].

Interpedicular distance: distance between the pedicles of the verterbrae. In this situation, the pedicles, small protrusions in the verterbrae, serve as landmarks to measure the width of the spinal canal.

interpedicular distance
Credits: Radiology Assistant.

Intervention (in a clinical trial): Investigational or already available process or action that is being studied in a clinical trial. It can be a drug, surgery, vaccine, or any other product or process under investigation, including non-invasive actions, such as surveys [34].

In vitro: test/experiment done outside a living organism, in lab conditions. It can be done in cultured cells, for example.One of the weaknesses of in vitro experiments is that they fail to replicate the precise cellular conditions of an organism [35].


In vivo: test/experiment done in a living organism, such as a mouse.


Joint subluxation: partial dislocation (luxation) of a joint.


kDa: Kilodalton. It's a measure of the molecular weight of macromolecules and it's equivalent to 1000 atomic mass units (1 atomic mass unit is equivalent to the mass of 1 neutron and 1 proton).

Kyphosis: Kyphos - hump. Normal curvature of the back in the thoracic region of the back (middle back). It is often used to describe an excessive curvature (a hump), although the correct medical term would be a hyperkyphosis, or an abnormal curvature, such as a kyphosis in the lumbar region [36].

Kyphoscoliosis: A combination of kyphosis and scoliosis. It is an abnormal curvature both in the sagital plane and the frontal plane (a "hump" or the lack of it combined with a "sideways" curvature).


Long tract signs: Neurological signs such as clonus, muscle spasticity, or bladder involvement that usually indicate a lesion in the middle or upper parts of the spinal cord or in the brain [37].

Longitudinal Study: In a longitudinal study subjects are followed over time with continuous or repeated monitoring of risk factors, health outcomes, or both [38].

Lumbar Lordosis: curvature of the lower back.


Macrocephaly: macro - big; cephalus - head. Abnormal enlargement of the head in proportion to other body parts.

Macroglossia: abnormal enlargement of the tongue in proportion to other structures in the mouth [39].

Malocclusion: an abnormal occlusion in which teeth are not in a normal position in relation to adjacent teeth in the same jaw and/or the opposing teeth when the jaws are closed [40].

Metaphyseal: relating to a metaphysis, a region of the bone between the diaphysis and epiphysis.

623 Epiphyseal Plate Line
Credits: OpenStax College.

Micro-CT: Micro computed tomography or "micro-CT" is x-ray imaging in 3D, by the same method used in hospital CT (or "CAT") scans, but on a small scale with massively increased resolution, short scan time, and high sensitivity to the lungs and bone [41]. Enables a non-invasive inspection of anatomical changes in small animals [42].

Midface hypoplasia: hypo - reduced; plasia - growth. Reduced growth of the middle third of the face.

Modulate: Something that induces changes in a particular area or characteristic of a molecule or process [43].

Musculoskeletal: Relating to or involving the muscles and bones.

Mutation: permanent alteration in the DNA, in a specific point of a gene or in more than one. It can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely.


Natural history study: A study designed to understand how a certain condition or disease develops by collecting medical history data and following group of people who have or are at risk of developing a certain condition [44].

Neuraxial Anesthesia: it's a type of regional anesthesia that involves injection of anesthetic medication in the fatty tissue that surround the nerve roots as they exit the spine (also known as an epidural) or into the cerebrospinal fluid which surrounds the spinal cord (also known as a spinal) [45].


Observational study: A study where no attempt to change the outcome is made (no treatment is given) and certain outcomes, such as growth rate or disease progression, are observed in the participants and recorded [46].

Obstructive sleep apnea (apnoea in british english): significant or complete, repetitive airflow reduction during sleep due to an obstruction, in this case, the airways themselves, the adenoids and tonsils.

Open label clinical trial: It's when both researchers and participants know which treatment is being administered.

Orphan drug: A drug that targets a rare disease and, since it targets a very limited number of individuals, is commercially unviable under normal market conditions.

Otitis media: infection of the middle ear. When recurrent may lead to hearing loss.


Pathology: From the Greek pathos "suffering" and ology "the study of something".

Pharmacodynamics: The relationship between the concentration of drug at the site of action and the resulting effect, taking into account the duration and intensity of therapeutic effects, as well as the duration and intensity of adverse effects [47].

Pharmacokinetics: the study of "what the body does to the drug". It includes:
•    the rate and extent to which drugs are absorbed into the body and distributed to the body tissues;
•    the rate and pathways by which drugs are eliminated from the body by metabolism and excretion;
•    the relationship between time and plasma drug concentration [48].

Peptide: A short chain of amino acids connected by peptide bonds. The word can refer to any chain of two or more amino acids or, typically in a technical text, can refer to only short chains of amino acids.

Phenotype: Observable characteristics of an individual of a certain species given a certain set of environmental and genetic circumstances. It can be behavioural, physical or psychological and is mainly defined by the genotype, the set of genes that make up that individual.

Placebo: an inert substance that has no therapeutic action or effect, but can produce the placebo effect, that is the response that follows the administration of a placebo [49].

Prenylation: A modification cells can make in some of their proteins that results in a signal for that protein to be transported somewhere specific (such as the cell membrane) or for it to be able to interact with other proteins [50].

Prevalence: Number of people who have a disease at a given point in time or over a period of time. Differs from incidence in the fact that it includes preexisting cases and not just new ones [31].

Prodrug: It's a derivative of a drug that does not have pharmacological effects, but is able to release the parent molecule (the drug) in the body, either spontaneously or by action of certain enzymes in the body [51].



Randomized: A study in which the participants are assigned by chance to separate groups that compare different treatments; neither the researchers nor the participants can choose which group. Using chance to assign people to groups means that the groups will be similar and that the treatments they receive can be compared objectively. At the time of the trial, it is not known which treatment is best [52].

Rare disease: It's a concept used to identify a medical condition, syndrome, disease or disorder that affects less than 5 people in 10.000 (or less than 1 in 2000) in the European Community or in the USA, less than 200.000 Americans.

Retrospective study: A retrospective is a study that looks backward and examines exposures to suspected risk or protection factors in relation to an outcome that is established at the start of the study [53].

Rhizomelia: disproportion of the length of the proximal limb (proximal – closest to the trunk).


Sagittal dimension: Vertical plane that divides the body (or a body part) into left and right halves.

Sacrosciatic notch: notch between the ilium, ischium, and sacrum, where the sciatic nerve passes through the pelvis.

Greater sciatic foramen
Credits: Mikael Häggström.

Skeletal Dysplasia: Dysplasia - abnormal growth or development; it's a term that refers to a group of disorders associated with a generalized abnormal growth of the skeleton. Most cause a form of dwarfism, but there are a few exceptions, such as Marfan Syndrome [54].

Stenosis: A narrowing or constriction of the diameter of a bodily passage or orifice [55].

Synchondroses: Sites of endochondral skull growth, located at the base of the skull. They are a form of cartilaginous joint.


Thoracolumbar kyphosis: Exaggerated curvature of the spine at the lower thoracic or lumbar region.

Thoracolumbar kyphosis
Credits: original photo.

Transmembrane protein: A protein that spans a cell's lipidic membrane and has at least a domain (a part of it) inside the cell, one spanning the membrane and another outside [56].

Transverse dimension: Horizontal plane that divides the body (or a body part) into top and bottom halves.

Turner Syndrome: A rare disease with an incidence of 1 in 5000 live births, which is characterized by short stature and ovarian failure, and may have other complications. It is caused by an abnormal X or Y chromosome, or by X chromosome monosomy (when there is only one sex chromosome, an X chromosome) [57].

Tyrosine kinase: A class of proteins that have important roles in mediating signal cascades ("signal transmissions" in response to a stimulus) inside the cell. They have roles in many diverse biological activities, including differentiation and growth. FGFR3 has an cytoplasmic domain with tyrosine kinase activity [58].


Upper to lower body ratio (U/L ratio): The lower body segment is the measurement of the length from the pubic symphysis (roughly the pubic bone) to the floor; the upper body segment is the height minus the lower body segment. The average U/L ratio (upper body segment : lower body segment) at birth is about 1.7; at age 3 years it is 1.3; at greater than 7 years, it is 1.0 with the upper body segment and lower body segment being about equal. Higher U/L ratios are noted in short-limb dwarfism.


Vasoconstriction: Constriction of the blood vessels, which reduces the flow of blood through those vessels.

Vasodilation: Dilation of the blood vessels, which increases blood flow through those vessels.



Xenograft: A surgical graft/piece of tissue from one species to different species. The prefix "xeno-" means foreign.



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