Atrophy: Wasting away or diminution. Muscle atrophy is wasting of muscle, decrease in muscle mass. See the entire definition of Atrophy
Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. See the entire definition of Autosomal
Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene. See the entire definition of Autosomal recessive
Bone cancer: A malignancy in bone. Primary bone cancer, one that begins in bone, is uncommon but it is not unusual for a malignancy to spread to bone from other parts of the body such as from breast, lung, and prostate. See the entire definition of Bone cancer
Bone density: Bone density is the amount of bone tissue in a certain volume of bone. It can be measured using a special x-ray called a quantitative computed tomogram.
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
Cataract: A clouding or loss of transparency of the lens in the eye as a result of tissue breakdown and protein clumping. There are many causes of cataracts, including aging, cortisone medication, trauma, diabetes, and other diseases. Cataracts affect most people who live into an old age. Symptoms include double or blurred vision and sensitivity to light and glare. A physician can diagnose cataracts by examining the eyes with a viewing instrument. Sunglasses can help to prevent cataracts. See the entire definition of Cataract
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
Chromosome: A visible carrier of the genetic information. See the entire definition of Chromosome
Chronic: This important term in medicine comes from the Greek chronos, time and means lasting a long time. See the entire definition of Chronic
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
Diarrhea: A familiar phenomenon with unusually frequent or unusually liquid bowel movements, excessive watery evacuations of fecal material. The opposite of constipation. The word "diarrhea" with its odd spelling is a near steal from the Greek "diarrhoia" meaning "a flowing through." Plato and Aristotle may have had diarrhoia while today we have diarrhea. There are myriad infectious and noninfectious causes of diarrhea. See the entire definition of Diarrhea
DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA. In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.) See the entire definition of DNA
DNA replication: A wondrous complex process whereby the ("parent") strands of DNA in the double helix are separated and each one is copied to produce a new ("daughter") strand. This process is said to be "semi-conservative" since one of each parent strand is conserved and remains intact after replication has taken place.
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.
Genetics: The scientific study of heredity. Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc. See the entire definition of Genetics
Incidence: The frequency with which something, such as a disease, appears in a particular population or area. In disease epidemiology, the incidence is the number of newly diagnosed cases during a specific time period. The incidence is distinct from the prevalence which refers to the number of cases alive on a certain date.
Lens: The transparent structure inside the eye that focuses light rays onto the retina (the nerve layer that lines the back of the eye, senses light and creates impulses that go through the optic nerve to the brain). The lens was named after the lentil bean because it resembled it in shape and size. See the entire definition of Lens
Mutation: A permanent change, a structural alteration, in the DNA or RNA. In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV, mutations occur in RNA which is the genetic material of retroviruses. See the entire definition of Mutation
Osteopenia: Mild thinning of the bone mass, but not as severe as osteoporosis. Osteopenia results when the formation of bone (osteoid synthesis) is not enough to offset normal bone loss (bone lysis). Osteopenia is generally considered the first step along the road to osteoporosis, a serious condition in which bone density is extremely low and bones are porous and prone to shatter. Diminished bone calcification, as seen on plain X-ray film, is referred to as osteopenia, whether or not osteoporosis is present. The diagnosis of osteopenia may also be made by a special X-ray machine for bone density testing. See the entire definition of Osteopenia
Osteosarcoma: A cancer of the bone that occurs predominantly in adolescents and young adults. It accounts for 5 percent of cancer in children. See the entire definition of Osteosarcoma
Poikiloderma: Extra pigmentation of the skin demonstrating a variety of shades and associated with widened capillaries (telangiectasia) in the affected area.
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
Radial: A word with diverse meanings in medicine and the biomedical sciences:
Pertaining to the radius, the smaller bone in the forearm. The radial artery is so named because of its proximity to the radius.
Pertaining to the radius of a circle.
Spreading from a central point. A radial keratotomy is an eye operation in which incisions are made in the cornea that resemble the spokes in a wheel.
Rash: Breaking out (eruption) of the skin. Medically, a rash is referred to as an exanthem.
Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers. See the entire definition of Recessive
Replication: A turning back, repetition, duplication, reproduction.
Rothmund-Thomson syndrome: An hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with growth retardation, premature baldness, juvenile cataracts, depressed nasal bridge, and malformations of the teeth, hair, and bone. There is also underdevelopment of the gonads, soft tissue contractures of the limbs, anemia, and a tendency to develop a type of bone cancer (osteogenic sarcoma). See the entire definition of Rothmund-Thomson syndrome
Skeletal: Pertaining to the skeleton, the bones of the body which collectively provide the framework for the body.
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
The word "rash" means an outbreak of red bumps on the body. The way people use this term, "a rash" can refer to many different skin conditions. The most common of these are scaly patches of skin and red, itchy bumps or patches all over the place.
Diarrhea is a change is the frequency and looseness of bowel movements. Cramping, abdominal pain, and the sensation of rectal urgency are all symptoms of diarrhea. Absorbents and anti-motility medications are used to treat diarrhea.
In the U.S., more than 2,000 people are diagnosed with bone cancer every year. There are many types of bone cancer. The most common forms of bone cancer are osteosarcoma, Ewing's sarcoma, chondrosarcoma, malignant fibrous histiocytoma, fibrosarcoma, and chordoma. Pain is the most common symptom. Treatment usually involves surgery, chemotherapy, and radiation therapy.
Skin cancer is the most common form of cancer
in humans. There are three main types of skin cancer; basal cell carcinoma and
squamous cell carcinoma (the nonmelanoma skin cancers), and melanoma.
Nausea is an uneasiness of the stomach that often precedes vomiting. Nausea and vomiting are not diseases, but they are symptoms of many conditions. The causes of vomiting differ according to age, and treatment depends upon the cause of nausea and vomiting.
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.
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.
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.
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.
Nausea and vomiting are symptoms of an underlying disease and not a specific
illness. Nausea is the sensation that the stomach wants to empty itself, while
vomiting (emesis) or throwing up, is the act of forcible emptying of the
stomach.
Vomiting is a violent act in which the stomach has to overcome the pressures
that are normally in place to keep food and secretions within the stomach. The
stomach almost turns itself inside out - forcing itself into the lower portion
of the esophagus (the tube that connects the mouth to the stomach) during a
vomiting episode.
What causes nausea or vomiting?
There are numerous causes of nausea and vomiting. These symptoms may be due
to the following:
acute gastritis
central causes (signals from the brain)
association with other illnesses remote from the stomach
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