A doctor who specializes in the diagnosis and treatment of conditions affecting the endocrine system (glands and hormones of the body).

A technique that combines the use of endoscopy and fluoroscopy to diagnose and treat certain problems of the biliary or pancreatic ductal systems.

A doctor who specializes in the transmission and control of epidemic diseases. These doctors are sometimes referenced as infectious disease specialists.

A diagnostic test used in cardiology in which the ability of the heart to respond to stress through exercise.

A technique of providing both cardiac and respiratory support oxygen to patients whose heart and lungs are so severely diseased or damaged that they can no longer serve their function.

Failure to Thrive (FTT) is a condition in a baby or child that relates to the child's failure to grow (mentally, physically or emotionally). It also relates to gains in height and weight as expected for the child's age. It usually is noticed from infancy to the age of five. FTT is a term used to describe a child who is far below normal height and weight gains for his/her age.

Muscular twitching involving individual muscle fibers acting without coordination.

A doctor who specializes in the treatment and diagnosis of diseases of the gastrointestinal system (stomach, intestines and associated organs).

The fundamental physical and functional unit of heredity. A gene is an ordered sequence of nucleotides located in a particular position on a particular chromosome that encodes a specific functional product (i.e., a protein or RNA molecule).

Provides patients and their families with education and information about genetic-related conditions.

An organism in which different cells contain different genetic sequence. This can be the result of a mutation during development or fusion of embryos at an early developmental stage.

Testing a group of people to identify individuals at high risk of having or passing on a specific genetic disorder.

A test used to screen for genetic disorders, which involves direct examination of the DNA molecule itself. A positive result means the person being tested has a mutation in the gene that causes Barth syndrome (TAZ). A negative result means a mutation has not been found in the gene that causes Barth syndrome. A variant of unknown significance result means an unusual genetic sequence has been identified but it is not clear if that change is harmful or will result in the person developing symptoms of Barth syndrome.

The study of inheritance patterns of specific traits.

The genetic constitution/makeup of an organism, as distinguished from its physical appearance (its phenotype).

A colony-stimulating factor that stimulates the production of neutrophils. G-CSF is a cytokine that belongs to the family of drugs called hematopoietic (blood-forming) agents.

An autoimmune disease that most commonly affects the thyroid, frequently causing it to enlarge to twice its size or more (goiter), become overactive, with related hyperthyroid symptoms such as increased heartbeat, muscle weakness, disturbed sleep and irritability. It can also affect the eyes, causing bulging eyes (exophthalmos). It affects other systems of the body including the skin, heart, circulation and nervous system.

Constitutional growth delay (CGD) is a normal growth pattern for some children. It leads to slow growth and delayed puberty (the time when children's bodies begin to mature sexually). CGD becomes noticeable when the child's peers are in their time of rapid growth and sexual development.

A medical condition in which the body does not produce enough growth hormone..

An autoimmune disease in which the thyroid gland is attacked by the immune system. The resulting inflammation often leads to an underactive thyroid gland (hypothyroidism).

A sudden and sometimes fatal occurrence of coronary thrombosis, typically resulting in the death of part of a heart muscle. Also called myocardial infarction

Recurrent sudden attacks of unconsciousness caused by impaired conduction of the impulse that regulates the heartbeat.

Accumulation of fluid in the lungs resulting from failure of the left ventricle of the heart.

Failure of the pumping action of the left side of the heart resulting in congestion of the lungs or low heart output.

Failure of the pumping action of the right ventricle resulting in peripheral (systemic) edema or low heart output.

A condition of the heart valve in which it is partially open when it should be closed.

A doctor who specializes in the diagnosis and treatment of the blood and blood-forming organs.

A red protein responsible for transporting oxygen in the blood.

An escape of blood from a ruptured blood vessel.

A doctor who diagnoses and treats diseases of the liver , gallbladder, biliary tree and pancreas.

The good cholesterol that promotes the breakdown, and, removal from the body of its cholesterol.

H2 blockers, also called H2-receptor antagonists, are medicines that reduce the amount of acid the stomach produces by blocking one important producer of acid: histamine2. These medications are commonly used to treat gastroesophageal reflux disease (GERD) and peptic ulcers. Commonly prescribed H2 blockers: cimetidine (Tagamet), famotidine (Pepcid) and ranitidine (Zantac)

A portable ECG device for continuously monitoring various electrical activity of the cardiovascular system for at least 24 hours.

Chemical substances that act like messenger molecules in the body.

A prefix meaning over or high.

High levels of blood sugar.

Blood pressure that is above the normal range.

Hypertrophic cardiomyopathy (also known as HCM, IHSS, hypertrophic obstructive cardiomyopathy) is an illness affecting the heart muscle. It interferes with the heart's ability to pump blood. Sometimes it also changes the heart's natural rhythm, which leads to irregular heartbeats (arrhythmias). Hypertrophic cardiomyopathy, occurs when the heart's muscle fibers grow abnormally. Heart walls thicken, especially in the left ventricle (the main pumping chamber). The left ventricle becomes smaller inside, the heart cannot rest completely between beats, and the ventricle pumps less blood out of the heart. People are at risk for fainting (syncope), chest pain (angina), difficulty breathing (dyspnea), and sudden death.

A prefix meaning under or low.

Low levels of blood sugar.

Hypotonia is decreased muscle tone. Muscle tone is the amount of tension or resistance to movement in a muscle while at rest. It is different from muscle strength which is how much force a muscle can apply. For example, you may be able to do sit-ups which are a measure of abdominal muscle strength but if the belly is not firm then there is low muscle tone. Many people with hypotonia also have muscle weakness. Hypotonic infants are also called "floppy infants" because the low muscle tone and decreased strength of the neck and trunk muscles make the children floppy like a rag doll.

Deficiency in the amount of oxygen reaching the tissues.

A medical practitioner who specializes in diagnosis and treatment of immunological conditions. An immunologist is sometimes referred to as an allergist.

An agent that can suppress or prevent the immune response. Immunosuppressant medications are used to prevent rejection of a transplanted organ and to treat autoimmune diseases.

A subcutaneous, single-lead, electrocardiographic (ECG) monitoring device used for diagnosis in patients with recurrent unexplained episodes of palpitations or syncope, for long-term monitoring in patients at risk for or with documented atrial fibrillation (AF), and for risk stratification in patients who have sustained a myocardial infarction (MI) and those who have certain genetic disorder)

A doctor who specializes in the diagnosis and treatment of infectious diseases. These doctors are sometimes referenced as epidemiologists.

An individual willingly agrees to participate in an activity after first being advised of the risks and benefits. See also

In genetics, to receive genetic material from parents through biological processes.

A substance that increases strength of the contractions in the heart.

Intolerance or sensitivity to a substance is less extreme than an allergic response. Symptoms of intolerance or sensitivity are bloating, nausea, cramping, gas, diarrhea. Sensitivities to substances may worsen overtime and may result in allergic responses.