The following are health and medical definitions of terms that appear in the Down Syndrome article.
Abdominal: Relating to the abdomen, the belly, that part of the body that contains all of the structures between the chest and the pelvis. The abdomen is separated anatomically from the chest by the diaphragm, the powerful muscle spanning the body cavity below the lungs. See the entire definition of Abdominal
Acute: Of abrupt onset, in reference to a disease. Acute often also connotes an illness that is of short duration, rapidly progressive, and in need of urgent care. See the entire definition of Acute
Acute lymphoblastic leukemia: An acute (sudden onset), rapidly progressing form of leukemia that is characterized by the presence in the blood and bone marrow of large numbers of unusually immature white blood cells destined to become lymphocytes. Acute lymphoblastic leukemia is also called acute lymphocytic leukemia and is abbreviated ALL (spoken not as the word "all", but as the three letters A-L-L). ALL is the most common cancer occurring in children, representing almost 25% of cancer among children. There is a sharp peak in the incidence of ALL incidence among children ages 2 to 3. This peak is approximately fourfold greater than that for infants and is nearly 10-fold greater than that for youths who are 19 years old. See the entire definition of Acute lymphoblastic leukemia
Advanced maternal age: Usually defined as age 35 or more for the mother at the time of delivery of her baby. See the entire definition of Advanced maternal age
Alzheimer's disease: A progressive neurologic disease of the brain that leads to the irreversible loss of neurons and dementia. The clinical hallmarks of Alzheimer's disease are progressive impairment in memory, judgment, decision making, orientation to physical surroundings, and language. A working diagnosis of Alzheimer disease is usually made on the basis of the neurologic examination. A definitive diagnosis can be made only at autopsy. On a cellular level, Alzheimer's disease is characterized by unusual helical protein filaments in nerve cells (neurons) of the brain. These odd twisted filaments are called neurofibrillary tangles. On a functional level, there is degeneration of the cortical regions, especially the frontal and temporal lobes, of the brain. See the entire definition of Alzheimer's disease
Amniocentesis: Procedure used in prenatal diagnosis to obtain amniotic fluid which can be used for genetic and other diagnostic tests. Informally called an "amnio."
Amniotic fluid: The fluid bathing the fetus and serving as a shock absorber.
Amyloid: Any of a number of complex proteins that are deposited in tissues and that share selected laboratory features such as a change in the fluorescence intensity of certain aromatic dyes like Congo Red. See the entire definition of Amyloid
Analysis: A psychology term for processes used to gain understanding of complex emotional or behavioral issues.
Anus: The opening of the rectum to the outside of the body. See the entire definition of Anus
Apnea: An apnea is a period of time during which breathing stops or is markedly reduced. There are two types of apneas, the more common obstructive sleep apnea and the less common central sleep apnea. See the entire definition of Apnea
Atresia: Absence of a normal opening or failure of a structure to be tubular. See the entire definition of Atresia
Autism: A spectrum of neuropsychiatric disorders characterized by deficits in social interaction and communication, and unusual and repetitive behavior. Some, but not all, people with autism are non-verbal. See the entire definition of Autism
Bowel: Another name for the intestine. The small bowel and the large bowel are the small intestine and large intestine, respectively. See the entire definition of Bowel
Brain: That part of the central nervous system that is located within the cranium (skull). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called "hemispheres."
Bridge: A set of one or more false teeth supported by a metal framework, used to replace one or more missing teeth. See the entire definition of Bridge
Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, in some cases, to metastasize (spread). See the entire definition of Cancer
Catheter: A thin, flexible tube. For example, a catheter placed in a vein provides a pathway for giving drugs, nutrients, fluids, or blood products. Samples of blood can also be withdrawn through the catheter. See the entire definition of Catheter
Celiac disease: A disorder resulting from an immune reaction to gluten, a protein found in wheat and related grains, and present in many foods. Celiac disease causes impaired absorption and digestion of nutrients through the small intestine. Symptoms include frequent diarrhea and weight loss. A skin condition dermatitis herpetiformis can be associated with celiac disease. The most accurate test for celiac disease is a biopsy of the involved small bowel. Treatment is to avoid gluten in the diet. Medications are used for refractory (stubborn) celiac disease.
Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane. See the entire definition of Cell
Cerebellum: The portion of the brain in the back of the head between the cerebrum and the brain stem. The cerebellum controls balance for walking and standing and other complex motor functions.
Cervical: Having to do with any kind of neck including the neck on which the head is perched and the neck of the uterus. The word "cervix" in Latin means "neck". That is why cervical vertebrae and cervical cancer involve quite disparate parts of the anatomy joined only by the meaning of the word "cervix".
Chorionic villus sampling: A procedure for first-trimester prenatal diagnosis. Chorionic villus sampling may be done between the eighth and tenth weeks of pregnancy. The aim is to diagnose severe abnormalities afflicting the fetus. In the procedure, tissue is withdrawn from the villi (vascular fingers) of the chorion, a part of the placenta, and examined. Chorionic villus sampling is referred to commonly as CVS.
Chromosome: A visible carrier of the genetic information. See the entire definition of Chromosome
Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods. See the entire definition of Chromosomes
Clinical trials: Trials to evaluate the effectiveness and safety of medications or medical devices by monitoring their effects on large groups of people. See the entire definition of Clinical trials
Cognition: The process of knowing and, more precisely, the process of being aware, knowing, thinking, learning and judging. The study of cognition touches on the fields of psychology, linguistics, computer science, neuroscience, mathematics, ethology and philosophy. See the entire definition of Cognition
Cognitive: Pertaining to cognition, the process of knowing and, more precisely, the process of being aware, knowing, thinking, learning and judging. The study of cognition touches on the fields of psychology, linguistics, computer science, neuroscience, mathematics, ethology and philosophy. See the entire definition of Cognitive
Conception:1. The union of the sperm and the ovum. Synonymous with fertilization. 2. The onset of pregnancy, marked by implantation of the blastocyst into the endometrium. 3. A basic understanding of a situation or a principle. From the Latin conceptio, conceptionis meaning conception, becoming pregnant; drawing up of legal formulae; and from the Latin conceptus meaning conceiving, pregnancy; collecting, or a collection.
Congenital: Present at birth. A condition that is congenital is one that is present at birth. There are numerous uses of "congenital" in medicine. There are, for example, congenital abnormalities. (For more examples, see below.) See the entire definition of Congenital
Constipation: Infrequent (and frequently incomplete) bowel movements. The opposite of diarrhea, constipation is commonly caused by irritable bowel syndrome, diverticulosis, and medications (constipation can paradoxically be caused by overuse of laxatives). Colon cancer can narrow the colon and thereby cause constipation. The large bowel (colon) can be visualized by barium enema x-rays, sigmoidoscopy, and colonoscopy. Barring a condition such as cancer, high-fiber diets can frequently relieve the constipation.
Cure:1. To heal, to make well, to restore to good health. Cures are easy to claim and, all too often, difficult to confirm. 2. A time without recurrence of a disease so that the risk of recurrence is small, as in the 5-year cure rate for malignant melanoma. 3. Particularly in the past, a course of treatment. For example, take a cure at a spa. See the entire definition of Cure
Dementia: Significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. See the entire definition of Dementia
Depression: An illness that involves the body, mood, and thoughts, that affects the way a person eats and sleeps, the way one feels about oneself, and the way one thinks about things. A depressive disorder is not the same as a passing blue mood. It is not a sign of personal weakness or a condition that can be wished away. People with a depressive disease cannot merely "pull themselves together" and get better. Without treatment, symptoms can last for weeks, months, or years. Appropriate treatment, however, can help most people with depression. See the entire definition of Depression
Diagnosis:1 The nature of a disease; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies. 3 The identification of any problem. The diagnosis was a plugged IV. See the entire definition of Diagnosis
Digit: A finger or toe.
Down syndrome: A common chromosome disorder due to an extra chromosome number 21 (trisomy 21). Down syndrome causes mental retardation, a characteristic face, and multiple malformations. Down syndrome is a relatively common birth defect. The chromosome abnormality affects both the physical and intellectual development of the individual. See the entire definition of Down syndrome
Ductus: A duct or walled passageway suitable for the conveyance of air or, more often in the body, liquids. See the entire definition of Ductus
Ductus arteriosus: A key arterial shunt (ductus) in fetal life. Before birth, blood pumped from the heart through the pulmonary artery toward the lungs is shunted into the aorta. This arterial shunt is a short vessel called the ductus arteriosus. When the shunt is open, it is said to be patent. See the entire definition of Ductus arteriosus
Duodenal: Pertaining to the duodenum, part of the small intestine. As in duodenal ulcer or duodenal biliary drainage.
Ear: The hearing organ. There are three sections of the ear, according to the anatomy textbooks. They are the outer ear (the part we see along the sides of our head behind the temples), the middle ear, and the inner ear. But in terms of function, the ear has four parts: those three and the brain. Hearing thus involves all parts of the ear as well as the auditory cortex of the brain. The external ear helps concentrate the vibrations of air on the ear drum and make it vibrate. These vibrations are transmitted by a chain of little bones in the middle ear to the inner ear. There they stimulate the fibers of the auditory nerve to transmit impulses to the brain. See the entire definition of Ear
Epicanthal fold: A fold of skin that comes down across the inner angle (canthus) of the eye. The epicanthal fold is more common in children with Down syndrome and other birth defects than normal children and so is of value in diagnosis. Although some dictionaries state that this eye fold is found in peoples of Asian origin, this is not true. The normal Asian eyefold is continuous with the lower edge of the upper eyelid and actually appears distinctly different than a true epicanthal fold.
Father: (1) The male parent. (2) One who originates. For example, "Wilhelm Roentgen is considered the father of radiology." (3) To produce offspring as a male. (4) To provide paternal protection and guidance to children.
Femur: The femur is the bone in the leg that extends from the hip to the knee. See the entire definition of Femur
Fertile: Able to conceive and bear offspring.
Fetus: The unborn offspring from the end of the 8th week after conception (when the major structures have formed) until birth. Up until the eighth week, the developing offspring is called an embryo.
Fistula: An abnormal passageway in the body. The fistula may go from the body surface into a blindpouch or into an internal organ or go between two internal organs. See the entire definition of Fistula
Gastrointestinal: Adjective referring collectively to the stomach and small and large intestines. See the entire definition of Gastrointestinal
Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Gene
Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Genes
Genetic: Having to do with genes and genetic information.
Genetic testing: Tests done for clinical genetic purposes. Genetic tests may be done for diverse purposes pertaining to clinical genetics, including the diagnosis of genetic disease in children and adults; the identification of future disease risks; the prediction of drug responses; and the detection of risks of disease to future children.
Gonadotropin: Hormones that are secreted by the pituitary gland, and that affect the function of the male or female gonads. See the entire definition of Gonadotropin
Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest. See the entire definition of Heart
Hippocampus: An area buried deep in the forebrain that helps regulate emotion and memory. Functionally, the hippocampus is part of the olfactory cortex, that part of the cerebral cortex essential to the sense of smell. Certain antidepressants (such as fluoxetine, or Prozac) influence the birth of new neurons in the hippocampus. The hippocampus is so-called because its shape suggests that of a seahorse. From the Greek hippos (horse) = kampos (a sea monster).
Hirschsprung disease: A congenital abnormality (birth defect) of the bowel in which there is absence of the ganglia (nerves) in the wall of the bowel. Nerves are missing starting at the anus and extending a variable distance up the bowel. This results in megacolon (massive enlargement of the bowel) above the point where the nerves are missing. (The nerves are needed to assist in the natural movement of the muscles in the lining of our bowels which move bowel contents through.) See the entire definition of Hirschsprung disease
Hormone: A chemical substance produced in the body that controls and regulates the activity of certain cells or organs. See the entire definition of Hormone
Humerus: The long bone in the arm which extends from the shoulder to the elbow.
Hygiene: The science of preventive medicine and the preservation of health. From the name of Hygeia, the daughter of Asklepios, the Greek god of medicine (whose staff with entwined snake is the symbol of medicine). Asklepios (known to the Romans as Aesculapius) had a number of children including not only Hygeia but also Panaceia, the patroness of clinical medicine. Hygeia also followed her father into medicine. As the patroness of health, Hygeia was charged with providing a healthy environment to prevent illness. In Greek, "hygieia" means health.
Hyperactivity: A higher than normal level of activity. An organ can be described as hyperactive if it is more active than usual. Behavior can also be hyperactive. See the entire definition of Hyperactivity
Hypoplasia: Underdevelopment or incomplete development of a tissue or organ. For example, there can be hypoplasia (underdevelopment) of the enamel of the teeth. Hypoplasia is less drastic than aplasia where there is no development at all.
Hypothyroid: Deficiency of thyroid hormone which is normally made by the thyroid gland which is located in the front of the neck:
Iliac: Pertaining to the ilium.
Imperforate anus: A congenital malformation (a birth defect) in which the rectum is a blind alley (a cul-de-sac) and there is no anus. See the entire definition of Imperforate anus
Indicate: In medicine, to make a treatment or procedure advisable because of a particular condition or circumstance. For example, certain medications are indicated for the treatment of hypertension during pregnancy while others are contraindicated.
Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child. See the entire definition of Inheritance
Insertion: Chromosome abnormality due to insertion of a segment from one chromosome into another chromosome.
Intervention: The act of intervening, interfering or interceding with the intent of modifying the outcome. In medicine, an intervention is usually undertaken to help treat or cure a condition. For example, early intervention may help children with autism to speak. "Acupuncture as a therapeutic intervention is widely practiced in the United States," according to the National Institutes of Health. From the Latin intervenire, to come between.
Iris: The iris is the circular, colored curtain of the eye. Its opening forms the pupil. The iris helps regulate the amount of light that enters the eye. See the entire definition of Iris
Leg: In popular usage, the leg extends from the top of the thigh down to the foot. However, in medical terminology, the leg refers to the portion of the lower extremity from the knee to the ankle. See the entire definition of Leg
Leukemia: Cancer of the blood cells. The growth and development of the blood cells are abnormal. Strictly speaking, leukemia should refer only to cancer of the white blood cells (the leukocytes) but in practice it can apply to malignancy of any cellular element in the blood or bone marrow, as in red cell leukemia (erythroleukemia). See the entire definition of Leukemia
Maternal:1. Pertaining to the mother as, for example, the maternal mortality rate. 2. Related through the mother as, for example, the maternal grandparents. 3. Inherited from the mother as, for example, the maternal X chromosome.
Maternal age: The age of the mother at the time of delivery. Advanced maternal age is usually defined as age 35 or more at delivery. See the entire definition of Maternal age
Memory:1. The ability to recover information about past events or knowledge. 2. The process of recovering information about past events or knowledge. 3. Cognitive reconstruction. The brain engages in a remarkable reshuffling process in an attempt to extract what is general and what is particular about each passing moment. See the entire definition of Memory
Miscarriage: Inadvertent loss of a pregnancy before the fetus is viable. A considerable proportion of pregnancies end in a miscarriage. Also called a spontaneous abortion.
Mosaic: An individual or tissue containing two or more types of genetically different cells. All females are mosaics because of X-chromosome inactivation (lyonization). See the entire definition of Mosaic
Motor: In medicine, having to do with the movement of a part of the body. Something that produces motion or refers to motion. For example, a motor neuron is a nerve cell that conveys an impulse to a muscle causing it to contract. The term "motor" today is also applied to a nerve that signals a gland to secrete. Motor is as opposed to sensory.
Mouth:1. The upper opening of the digestive tract, beginning with the lips and containing the teeth, gums, and tongue. Foodstuffs are broken down mechanically in the mouth by chewing and saliva is added as a lubricant. Saliva contains amylase, an enzyme that digests starch. 2. Any opening or aperture in the body. The mouth in both senses of the word is also called the os, the Latin word for an opening, or mouth. The o in os is pronounced as in hope. The genitive form of os is oris from which comes the word oral.
Muscle: Muscle is the tissue of the body which primarily functions as a source of power. There are three types of muscle in the body. Muscle which is responsible for moving extremities and external areas of the body is called "skeletal muscle." Heart muscle is called "cardiac muscle." Muscle that is in the walls of arteries and bowel is called "smooth muscle."
Myeloid: Referring to the nonlymphocytic groups of white blood cells, including the granulocytes, monocytes and platelets. See the entire definition of Myeloid
Nasal: Having to do with the nose. Nasal drops are intended for the nose, not (for example) the eyes. The word "nasal" came from the Latin "nasus" meaning the nose or snout.
Neck: The part of the body joining the head to the shoulders. Also, any narrow or constricted part of a bone or organ that joins its parts as, for example, the neck of the femur bone.
Nose: The external midline projection from the face. See the entire definition of Nose
Nuchal: Referring to the back of the neck (nape). For example, nuchal rigidity is a stiff neck, sometimes a symptom of meningitis. See the entire definition of Nuchal
Nuchal translucency test: A measurement of the size of the translucent space behind the neck of the fetus using ultrasound at between 10 and 14 weeks of pregnancy, reflecting the amount of fluid that has accumulated under the skin of the fetus. Nuchal translucency tends to be increased in chromosome disorders such as Turner syndrome and Down syndrome. This is strictly a screening test. It gives no concrete answers, only statistics. See the entire definition of Nuchal translucency test
Obesity: The state of being well above one's normal weight. See the entire definition of Obesity
Otitis media: Inflammation of the middle ear characterized by the accumulation of fluid in the middle ear, bulging of the eardrum, pain in the ear and, if eardrum is perforated, drainage of purulent material (pus) into the ear canal. See the entire definition of Otitis media
Palm: The grasping side of the hand; the flexor surface of the hand. In contrast to the back of the hand, the extensor surface of the hand. See the entire definition of Palm
Patent ductus: Failure of the ductus arteriosus, which functions in fetal life as an arterial shunt, to close on schedule at or shortly after birth. When the shunt remains open, it is said to be patent. See: Patent ductus arteriosus.
Patent ductus arteriosus: Failure for the ductus arteriosus, an arterial shunt in fetal life, to close on schedule. See the entire definition of Patent ductus arteriosus
Pelvic: Having to do with the pelvis, the lower part of the abdomen, located between the hip bones.
Pelvis: The lower part of the abdomen located between the hip bones.
Percutaneous: Through the skin, as in a percutaneous biopsy.
Placenta: A temporary organ joining the mother and fetus, the placenta transfers oxygen and nutrients from the mother to the fetus, and permits the release of carbon dioxide and waste products from the fetus. It is roughly disk-shaped, and at full term measures about seven inches in diameter and a bit less than two inches thick. The upper surface of the placenta is smooth, while the under surface is rough. The placenta is rich in blood vessels. See the entire definition of Placenta
Precursor: Forerunner. That which precedes or is derived from an available source. See the entire definition of Precursor
Pregnancy: The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long. See the entire definition of Pregnancy
Pregnant: The state of carrying a developing fetus within the body. See the entire definition of Pregnant
Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein. See the entire definition of Protein
Psychiatric: Pertaining to or within the purview of psychiatry, the medical specialty concerned with the prevention, diagnosis, and treatment of mental illness. See the entire definition of Psychiatric
Puberty: A complex biologic and psychologic process involving sexual development, accelerated growth, and adrenal maturation heralded by the secretion of gonadotropin releasing hormone (GnRH) from a part of the brain called the hypothalamus. This event is the first known step in the reproductive cascade. It initiates the pulsatile release of gonadotropins, gonadal secretion of sex steroids, pubertal development, and gametogenesis (the production of sperm and ova). See the entire definition of Puberty
Random: The process by which an outcome is determined solely by chance, for example, by a coin flip. See the entire definition of Random
Renal: Having to do with the kidney. From the Latin renes (the kidneys), which gave the French les reins which mean both the kidneys and the lower back.
Renal pelvis: The area at the center of the kidney. Urine collects here and is funneled into the ureter.
Risk factor: Something that increases a person's chances of developing a disease.
Rule out: A term much used in medicine, meaning to eliminate or exclude something from consideration. The ACB (albumin cobalt binding) test helps rule out a heart attack in the differential diagnosis of severe chest pain.
Sleep apnea: The temporary stoppage of breathing during sleep, often resulting in daytime sleepiness. Apnea is a Greek word that means "want of breath." See the entire definition of Sleep apnea
Speech therapy: The treatment of speech and communication disorders. The approach used depends on the disorder. It may include physical exercises to strengthen the muscles used in speech (oral-motor work), speech drills to improve clarity, or sound production practice to improve articulation. See the entire definition of Speech therapy
Sperm: A sperm is the male "gamete" or sex cell. It combines with the female "gamete," called an ovum, to form a zygote. The formation process is called "fertilization." (see ovum, zygote).
Spine: 1) The column of bone known as the vertebral column, which surrounds and protects the spinal cord. The spine can be categorized according to level of the body: i.e., cervical spine (neck), thoracic spine (upper and middle back), and lumbar spine (lower back). See also vertebral column. 2) Any short prominence of bone. The spines of the vertebrae protrude at the base of the back of the neck and in the middle of the back. These spines protect the spinal cord from injury from behind.
Stenosis: A narrowing, as in:
aortic stenosis (narrowing of the aortic valve of the heart),
pulmonary stenosis (narrowing of the pulmonary valve of the heart),
pyloric stenosis (narrowing of the outlet of the stomach), and
spinal stenosis (narrowing of the vertebral canal).
Surgery: The word "surgery" has multiple meanings. It is the branch of medicine concerned with diseases and conditions which require or are amenable to operative procedures. Surgery is the work done by a surgeon. By analogy, the work of an editor wielding his pen as a scalpel is s form of surgery. A surgery in England (and some other countries) is a physician's or dentist's office. See the entire definition of Surgery
Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease. See the entire definition of Syndrome
Testicular cancer: Cancer of the male sex organ, the testicle, that normally produces the hormone testosterone. One of the most common cancers in young men. Most testicular cancers are found by men in themselves as a lump in the testicle. See the entire definition of Testicular cancer
Thyroid:1. The thyroid gland. Also, pertaining to the thyroid gland. 2. A preparation of the thyroid gland used to treat hypothyroidism. 3. Shaped like a shield. (The thyroid gland was so-named by Thomas Wharton in 1656 because it was shaped like an ancient Greek shield.) See the entire definition of Thyroid
Tongue: The tongue is a strong muscle anchored to the floor of the mouth. It is covered by the lingual membrane which has special areas to detect tastes. See the entire definition of Tongue
Trisomy: The presence of three copies of a chromosome rather than the normal two. The most common trisomies in newborns are trisomy 13 (Patau syndrome), trisomy 18 syndrome (Edwards syndrome) and trisomy 21 (Down syndrome). The most common trisomy among spontaneous abortions is trisomy 16. See the entire definition of Trisomy
Ultrasound: High-frequency sound waves. Ultrasound waves can be bounced off of tissues using special devices. The echoes are then converted into a picture called a sonogram. Ultrasound imaging, referred to as ultrasonography, allows physicians and patients to get an inside view of soft tissues and body cavities, without using invasive techniques. Ultrasound is often used to examine a fetus during pregnancy. There is no convincing evidence for any danger from ultrasound during pregnancy.
Umbilical cord: The cord that connects the developing embryo or fetus with the placenta and through which run the umbilical arteries and vein. The matrix (the substance) of the umbilical cord is known as Wharton's jelly and is a rich source of stem cells. At birth the umbilical cord measures about 20 inches (50 cm) in length. The cord is clamped and cut after birth and its residual tip forms the umbilicus (bellybutton).
Vagina: The muscular canal extending from the cervix to the outside of the body. It is usually six to seven inches in length, and its walls are lined with mucus membrane. It includes two vaultlike structures, the anterior (front) vaginal fornix and the posterior (rear) vaginal fornix. The cervix protrudes slightly into the vagina, and it is through a tiny hole in the cervix (the os) that sperm make their way toward the internal reproductive organs. The vagina also includes numerous tiny glands that make vaginal secretions. See the entire definition of Vagina
Villus:1. A tiny finger-like or hair-like projection. 2. A small vascular protrusion. Villus is the Latin word for shaggy hair or fleece. The plural is villi.
Leukemia is a type of cancer of the blood cells in which the growth and development of the blood cells are abnormal. Strictly speaking, leukemia should refer only to cancer of the white blood cells (the leukocytes) but in practice it can apply to malignancy of any cellular element in the blood or bone marrow, as in red cell leukemia (erythroleukemia).
Dementia is a significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. There are different criteria classification schemes for dementias such as cortical, subcortical, progressive, primary, and secondary dementias. Other conditions and medication reactions can also cause dementia. Dementia is diagnosed based on a certain set of criteria. Treatment for dementia is generally focused on the symptoms of the disease.
The Eustachian tube is a membrane lined tube that connects the middle ear space to the back of the nose. Problems include partial or complete blockage which can cause popping, clicking, and ear fullness. Allergies, sinus and ear infections, or the common cold can cause this blockage, while altitude changes can cause symptoms in those persons with Eustachian tube problems. Treatment includes several maneuvers (swallowing, chewing gum, yawning etc.), which can be done to improve Eustachian tube function.
Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome.
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms.
Klinefelter syndrome, also referred to as XXY condition, is a genetic disease. Klinefelter syndrome affects mostly males. Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Some men with Klinefelter syndrome have no symptoms. Treatment includes educational, therapeutic, and medical therapy.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Hirschsprung's disease (Hirschsprung), is a disease of the nerve cells of of the large intestine. The primary symptom of Hirschsprung's disease is constipation. Hirschsprung's disease is diagnosed through barium enema, and treatment is surgery.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Spina bifida is the most common neural tube defect in the United States. There are four types of spina bifida; 1) occulta, 2) closed neural tube defects, 3) meningocele, and 4) myelomeningocele. The cause of spina bifida is not known. Theories include genetic, nutritional, and environmental factors. Lack of folic acid during pregnancy is highly suspected. Symptoms of spina bifida vary from individual to individual. Treatment depends on the type of spina bifida the person suffers.
Microcephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain. Microcephaly is caused by genetic abnormalities, or from abuse of alcohol, drugs, infection (for example, German measles or chickenpox), exposure to toxins, or PKU while the mother is pregnant. Symptoms of microcephaly depend upon the severity of the accompanying syndrome. There is not treatment for microcephaly.
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in chestbone, webbing of the neck as well as heart and blood vessel defects. Named after Dr. Jacqueline A. Noonan it is inherited as an autosomal dominant disorder. The Noonan gene (NS1) is on a nonsex (autosomal) chromosome (number 12) and is transmitted from a parent with a 50% probability to boy or girl. Treatment for Noonan syndrome is directed toward the problems that may occur in a given affected individual. The heart defects may require surgical treatment. The expected outcome (prognosis) depends on the extent and severity of the features that are present.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
The Eustachian tube is a tube that originates in the
back of the nose, runs a slightly uphill course, and ends in the middle ear space. The
middle ear space is the hollowed out portion of the skull bone that contains the hearing apparatus and is covered on one side by the eardrum. In adults, the Eustachian tube is approximately 35 mm long (1.3 inches) and approximately 3 mm in diameter (less than 1/10 inch). Cartilage provides the supporting structure for the first two-thirds of the Eustachian tube, with the last third (the part closest to the middle ear space) being made of bone.
The tissue that lines the Eustachian tube is similar to that inside the nasal cavity and may respond the same way (swelling) when presented with similar stimuli. The Eustachian tube was named in honor of the 16th century Italian anatomiast Eustachius. Sources credit Almaceon of Sparta as the first to describe the structure in approximately 400 BC...
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