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 Abdomen
Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer).
Amniocentesis: Procedure used in prenatal diagnosis to obtain amniotic fluid which can be used for genetic and other diagnostic tests. Informally called an "amnio."
Anemia: The condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. See the entire definition of Anemia
Birth defect: Any defect present in a baby at birth, irrespective of whether the defect is caused by a genetic factor or by prenatal events that are not genetic. See the entire definition of Birth defect
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
Cervix: The cervix is the lower, narrow part of the uterus (womb). The uterus, a hollow, pear-shaped organ, is located in a woman's lower abdomen, between the bladder and the rectum. The cervix forms a canal that opens into the vagina, which leads to the outside of the body.
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 In the procedure, tissue is withdrawn from the villi (vascular fingers) of the chorion, a part of the placenta, and examined.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.
Cystic fibrosis: One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up. See the entire definition of Cystic fibrosis
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
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
Due date: The estimated calendar date when a baby will be born, the date the baby is due to be born. It is also called the estimated date of confinement (EDC).
Embryo: The organism in the early stages of growth and differentiation from fertilization to, in humans, the beginning of the third month of pregnancy. After that point in time, it is termed a fetus.
Family history: The family structure and relationships within the family, including information about diseases in family members. See the entire definition of Family history
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.
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 counseling: An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling is designed to provide patients and their families with information about their condition and help them make informed decisions. See the entire definition of Genetic counseling
Genetic disease: A disease caused by an abnormality in an individual's genome. See the entire definition of Genetic disease
Gynecology: The branch of medicine particularly concerned with the health of the female organs of reproduction and diseases thereof. See the entire definition of Gynecology
Infection: The growth of a parasitic organism within the body. (A parasitic organism is one that lives on or in another organism and draws its nourishment therefrom.) A person with an infection has another organism (a "germ") growing within him, drawing its nourishment from the person. See the entire definition of Infection
Last menstrual period: By convention, pregnancies are dated in weeks starting from the first day of a woman's last menstrual period (LMP). If her menstrual periods are regular and ovulation occurs on day 14 of her cycle, conception takes place about 2 weeks after her LMP. A woman is therefore considered to be 6 weeks pregnant 2 weeks after her first missed period. See the entire definition of Last menstrual period
Midwife: A person trained to assist a woman during childbirth. Many midwives also provide prenatal care for pregnant women, birth education for women and their partners, and care for mothers and newborn babies after the birth. A midwife may be a man or a woman. Depending on local law, midwives may deliver babies in the mother's home, in a special birthing center or clinic, or in a hospital. See the entire definition of Midwife
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.
Muscular: Having to do with the muscles. Also, endowed with above average muscle development. Muscular system refers to all of the muscles of the body collectively.
Muscular dystrophy: One of a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. The muscles of the heart and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well. See the entire definition of Muscular dystrophy
Neural: Having to do with nerve cells.
Obstetrics: The art and science of managing pregnancy, labor and the puerperium (the time after delivery).
Pap test: A screening test for cervical cancer based on the examination under the microscope of cells collected from the cervix, smeared on a slide and specially stained to reveal premalignant (before cancer) and malignant (cancer) changes as well as changes due to noncancerous conditions such as inflammation from infections. Also called a Pap smear. See the entire definition of Pap test
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
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
Sickle cell anemia: A genetic blood disease due to the presence of an abnormal form of hemoglobin, namely hemoglobin S. Hemoglobin is the molecule in red blood cells that transports oxygen from the lungs to the farthest areas of the body. See the entire definition of Sickle cell anemia
Speculum: An instrument used to widen an opening to look within a passage or a cavity. For example, a speculum may be used to widen the opening of the vagina so that the cervix is more easily visible. Other examples include the nasal speculum to look up into the nostrils and the ear speculum to look within the ear canal at the ear drum. The term "speculum" is the Latin word for mirror.
Spina bifida: A birth defect (a congenital malformation) in which there is a bony defect in the vertebral column so that part of the spinal cord, which is normally protected within the vertebral column, is exposed. People with spina bifida can suffer from bladder and bowel incontinence, cognitive (learning) problems and limited mobility. See the entire definition of Spina bifida
Stage: As regards cancer, the extent of a cancer, especially whether the disease has spread from the original site to other parts of the body. See also: Staging.
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
Tay-Sachs disease: A genetic metabolic disorder caused by deficiency of the enzyme hexosaminidase A (hex-A) that results in a failure to process a lipid called GM2 ganglioside that accumulates in the brain and other tissues. Abbreviated TSD. See the entire definition of Tay-Sachs disease
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.
Uterus: The uterus (womb) is a hollow, pear-shaped organ located in a woman's lower abdomen between the bladder and the rectum. The narrow, lower portion of the uterus is the cervix; the broader, upper part is the corpus. The corpus is made up of two layers of tissue.
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
Villi: Plural of villus, a tiny finger-like or vascular projection.
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.
A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th week of pregnancy. The cause of a miscarriage cannot always be determined. The most common causes of a miscarriage in the first trimester are collagen vascular disease (lupus), hormonal problems, diabetes, chromosomal abnormalities, and congenital abnormalities of the uterus.
Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as trisomy 21. Most individuals with Down syndrome have widely recognizable physical characteristics. The severity of Down syndrome ranges from mild to severe. Diagnostic testing for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling. The most common risk factor for Down syndrome is a woman's age.
Cystic fibrosis is a disease of the mucus and sweat glands. Cystic fibrosis is an inherited disease. The outcome of the disease leaves the body malnourished, bulky and fouls smelling stools, vitamin insufficiency, gas, painful or swollen abdomen, infertility, susceptible to heat emergencies, and respiratory failure. There is no cure for cystic fibrosis, treatment of symptoms is used to manage the disease.
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal hemoglobin. Symptoms may include bacterial infections, painful swelling of the hands and feet, fever, leg ulcers, fatigue, anemia, eye damage, and lung and heart injury. Treatment for sickle cell anemia aims to manage and prevent the worst manifestations of the disease and focuses on therapies that block red blood cells from stacking together, which can lead to tissue and organ damage and pain.
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.
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).
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.
Hemophilia is one of a group of inherited bleeding disorders. Hemophilia A and B are inherited in an X-linked recessive genetic pattern and is more common in males. Symptoms of hemophilia include bleeding into the joints, muscles, GI or urinary tract, or brain or skull. Treatments for hemophilia is generally replacement of blood clotting factors.
There are many syndromes and defects that may cause urine blockage in newborns. Defects in the urinary tract that may cause urine blockage include vesicoureteral reflux, ureteropelvic junction obstruction, bladder outlet obstruction, posterior urethral valves, nerve disease, and ureterocele. Syndromes that may cause urinary blockage include congenital heart defects, esophageal atresia, and prune belly syndrome. Treatment for urine blockage in newborns depends on the cause of the blockage.
Hemophilia is not one disease but rather one of a group of inherited bleeding
disorders that cause abnormal or exaggerated bleeding and poor blood clotting.
The term is most commonly used to refer to two specific conditions known as
hemophilia A and hemophilia B, which will be the main subjects of this article.
Hemophilia A and B are distinguished by the specific gene that is mutated
(altered to become defective) and codes for a defective clotting factor
(protein) in each disease. Rarely, hemophilia C is encountered, but its effect
on clotting is far less pronounced than A or B.
Hemophilia A and B are inherited in an X-linked recessive genetic pattern and
are therefore much more common in males. This pattern of inheritance means that
a given gene on the X chromosome expresses itself only when there is no normal
gene present. For example, a boy has only one X chromosome, so a boy with
hemophilia has the defective gene on his...
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