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Some laboratories are per- skin on the outside of the ear) are found in 75% of forming DNA testing for mutations in the EYA1 gene order 20mg cialis sublingual otc erectile dysfunction song, patients with BOR syndrome purchase cialis sublingual 20 mg visa impotence specialists. Hearing loss is present in however, this testing is currently being offered on a 85% of individuals with BOR syndrome and this loss research basis only. The most distinctive finding in individuals with BOR syndrome is the presence of cysts or fistulas in the Treatment and management neck region due to abnormal development of the Once a child is diagnosed with BOR syndrome, branchial arches. If Approximately two-thirds of individuals with BOR hearing loss is evident, the child should be referred to a syndrome also have kidney abnormalities. Hearing tests may need to be per- malities can be very mild and cause no health problems, formed on a regular basis. An ultrasound of the kidney may be necessary, neys can be smaller than normal (renal hypoplasia), due to the increased risk for birth defects in these areas. They are like “specialized sweat glands” in their structure and Prognosis function, in that they can produce and secrete fluids, like The prognosis for individuals with BOR syndrome is milk. The breasts naturally drain fluid have a normal life span and normal intelligence. Within the breasts are intri- Resources cate structures of ducts and lobules, which are channels and areas that create and transport milk during lactation. Male breast cancer, though rare, accounts for less than PERIODICALS 1% of all breast cancers. In these instances, individuals may have a strong NW, Suite 404, Washington, DC 20008. Breast cancers vary in their type and size, and this National Organization for Rare Disorders (NORD). Treatment and manage- ment of the cancer may be extremely exhausting, painful, Holly Ann Ishmael, MS and stressful for the patient and his or her family. Genetic profile Cells in breast tissue normally divide and grow, according to controls and instructions of various genes. If IBreast cancer these genes have changes within them, the instructions for cellular growth and division may go awry. Abnormal, Definition uncontrolled cell growth may occur, causing breast can- Breast cancer is a disease in which abnormal breast cer. Therefore, all breast cancers are genetic because they cells begin to grow uncontrollably, forming tumors. However, most often shows up as a breast lump, breast thickening, or breast cancers occur later in life after years of exposure skin change. BRCA1 and BRCA2 alterations are inherited in an Alteration—Change or mutation in a gene, specif- autosomal dominant manner; an individual has one copy ically in the DNA that codes for the gene. Nearly all individuals with BRCA alterations Bilateral breast cancer—Cancer of both breasts, have a family history of the alteration, usually a parent. In turn, they also may have a very strong family history of breast, ovarian, prostate, colon, and/or pancreatic can- Bile—A substance produced by the liver, and con- cers. Aside from BRCA1 and BRCA2, there likely are centrated and stored in the gallbladder. Bile con- other breast cancer susceptibility genes that are still tains a number of different substances, including unknown (such as BRCA3). BRCA1 and BRCA2 are thought to function as “tumor-suppressor genes,” meaning that their normal role Breast self-exam (BSE)—Examination by an indi- is to prevent tumors from forming. Alterations in that is sometimes high when ovarian cancer is tumor-suppressor genes, such as BRCA1 and BRCA2, present. A blood sample can determine the level of would naturally lead to an increased risk of developing CA-125 present. Clinical breast exam (CBE)—Examination of the There are rare, genetic cancer syndromes that may breasts, performed by a physician or nurse. As a group, these comprise less Malignant—A tumor growth that spreads to than 1% of all breast cancer diagnoses. These health problems can initially doses of x rays, in an attempt to visualize the inner appear unrelated, but may be caused by alterations in a breast tissue.

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For those who are unable to convert LA to GLA trusted 20mg cialis sublingual erectile dysfunction pills wiki, dietary supplements containing GLA can be taken to increase the production of prostaglandins discount cialis sublingual 20mg with mastercard erectile dysfunction pills cost. Evening Nutrients essential for the use of omega-6 fatty acids primrose, black currant, and all contain GLA. Long term exclusive or excessive use of flaxseed oil, which contains large amounts of omega-3 fatty acids, can result in omega-6 fatty acid deficiency and require the addition of oils containing omega-6 fatty Gittleman, Ann Louise. Omega-6 fatty acids may be consumed either as linoleic acid in oils that contain high levels of linoleic “Harvard Study Outlines Role of Fats in Blinding Eye Dis- acid, or in the converted form, GLA, in dietary supple- ease. Oregano essential oil Description General use GALE ENCYCLOPEDIA OF ALTERNATIVE MEDICINE 2 1491 diets pain yoga meditation cholesterol atherosclerosis pain martial arts reiki stressre- laxation massage therapy —A condition caused by a dietary defi- ciency of niacin, one of the B vitamins. The cysts that appear during the regular activity of and Paclitaxel (EPI-TAX Regimen) for Advanced Ovarian the ovaries are called functional cysts. The following herbs the duodenum (the upper part of the small intestine), are helpful in treating parasitic infestations: which are then analyzed for the presence of parasites. First discovered by • and vaginal swab to detect, Australian aborigines, has many uses, in- a parasite that causes vaginitis. Computed axial tomography (CT) scans bial alkaloid that can prevent parasites from attaching and magnetic resonance imaging (MRI) are used to di- to the intestinal walls of human hosts. Oregon grape and goldthread Alternative therapies for parasitic infections reduce () is a very safe parasitic infections by improving and strength- remedy for pinworm infection. The melon is a vegetable ening the immune system through herbal therapy and shaped like a cucumber with a bitter taste. It should be sliced thinly antiparasitic, and actually eliminate the organisms that and eaten raw with other vegetables to reduce its bitter cause disease. Daily consumption of one to two bitter melons per remedies should consult their doctor before using any of day for seven to 10 days can eliminate pinworm infec- these herbs. Patients may want to repeat the regimen after sever- children as they easily overdose. Chinese herbal combi- nations also help treat parasitic infections by supporting the gastrointestinal system, stimulating immune re- The following dietary changes may help prevent or sponse, and killing parasites. Fiber helps eliminate worms from the intestines; good nutrition im- proves immune function and protects the body against Infestations with lice, ticks, fleas, or bedbugs can be parasitic invasion. Depending on the severity of the condition and the species involved, drug treatment may • Supplementing the diet with such as include one (or more) of the following drugs: albenda-, and other benefi- zole, furazolidone, iodoquinol, mebendazole, metronida- cial intestinal bacteria that cultivate normal intestinal zole, niclosamide, paromomycin, pyrantel pamoate, flora and suppress the spreading of parasites. To prevent reinfection and transmission of disease, thorough cleaning of hands, clothes, sheets, and toys is Herbal treatment should be given in combination recommended. Treatments should involve all members with supportive dietary treatment and continued until the of the family and repeated treatments may be necessary. Alkaloid Astringent Diabetes Pancreas Placebo Preparations Side effects Interactions Precautions Resources BOOKS 1576 GALE ENCYCLOPEDIA OF ALTERNATIVE MEDICINE 2 interaction between heredity and environment. In all types of persensitive people have unique chemical reactions in the phobias, symptoms may be eased by lifestyle changes, brain that cause them to respond much more strongly to such as:. These people also may be especially sensitive to • eliminating caffeine, which triggers certain brain chemical responses. One part of • getting plenty of exercise the brain that is currently being studied is the amygdala, • reducing stress an almond-shaped body of nerve cells involved in nor- mal fear conditioning. Another area of the brain that ap- and mindfulness training can be benefi- pears to be linked to phobias is the posterior cerebellum. Relax- event usually triggers the development of a specific phobia ation training, which is sometimes called anxiety man- or agoraphobia. For example, someone predisposed to de- agement training, includes breathing exercises and simi- velop phobias who experiences severe turbulence during a lar techniques intended to help the patient prevent hyper- flight might go on to develop a phobia about flying. Certain vulnerable children who have had physical, as well as the emotional, tensions that either unpleasant social experiences (such as being rejected) or promote or are created by anxiety. Herbs known as adaptogens may be prescribed to The condition also may be related to low self-esteem, treat the anxiety related to phobias. Adrenal modulators such as last only a minute or so, the person remembers the feel- () and borage ( ings of panic so strongly that the possibility of another ), nervine herbs such as ( attack becomes terrifying. For this reason, people with ) and (), and an- agoraphobia avoid places where they might not be able tioxidal herbs like () are to escape if a panic attack occurs. Tonics of skullcap and oats ( While the specific trigger may differ, the symptoms ) may also be recommended to ease anxiety. For example, someone combination of and medication can be who is afraid to fly may begin having episodes of pound- quite effective.

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Since men tend to have one Y chromosome and one X Furthermore safe cialis sublingual 20 mg testosterone associations with erectile dysfunction diabetes and the metabolic syndrome, there are some organs that are found on chromosome cialis sublingual 20mg for sale erectile dysfunction at age 30, if it is a son that inherits the non-working both sides of the body, but have differences that distin- gene, he will be affected with the condition. In a X-linked form of asplenia will always pass their X chro- asplenia, the position, location, appearance, and perform- mosome containing the non-working gene on to all of their ance of some of the internal organs are altered. In these can often be found on the wrong side of the body and/or families, asplenia will never be passed from the father to have structural defects. Furthermore, in most people the the son, since men give their sons a Y chromosome. If a right and left organs are different; in people with asple- woman who carries a X-linked condition passes the X nia, both organs may appear to be structured the same. The pattern of inheritance of asplenia in a family is Genetic profile usually not obvious when there is only one individual In most families, asplenia is believed to occur diagnosed with the condition. In other words, it occurs for the first time in studies performed on asplenia, the chance of a couple a family and has no known or identifiable pattern of who have one child with asplenia having another child inheritance. This There have been several couples described in the chance may be higher if it is determined that asplenia is medical literature who have more than one child diag- part of Heterotaxy syndrome, since there are a wider nosed with asplenia. In several of these families, the par- range of symptoms associated with that condition. Individuals who are Furthermore, if more than one family member has the related to each other are more likely to carry some of the diagnosis of asplenia, the chance of it occurring again in 112 GALE ENCYCLOPEDIA OF GENETIC DISORDERS KEY TERMS Anomalous—Irregular or different from normal. Anomalous venous return—Normally, the veins that bring blood containing oxygen from the lungs Malrotation—An abnormality that occurs during to the heart (called pulmonary veins) are connected the normal rotation of an organ or organ system. In this situation, the pulmonary Pulmonary atresia—When there is no valve veins are connected to the right atrium. In the absence of this valve, the blood does Atria/Atrium—The upper chamber of the heart. Typically, there are two atrias, one on the right side Pulmonary stenosis—Narrowing of the pulmonary and one on the left side of the heart. Syndrome—A group of signs and symptoms that Congenital—Refers to a disorder which is present at collectively characterize a disease or disorder. Transposition of the great arteries—A reversal of Cyanosis—The bluish color of the skin that occurs the two great arteries of the heart, causing blood when there is very low oxygen in the blood that is containing oxygen to be carried back to the lungs being transported throughout the body. Isomerism—Refers to the organs that typically come Ventricular septal defect (VSD)—An opening in pairs, but where the right organ is structurally dif- between the right and left ventricles of the heart. Almost all individuals with asplenia have an abnor- Since asplenia appears to be inherited in different mal or absent spleen. However, there are other organs and ways, it is theorized that there may be several different organ systems that can be affected. This means that some families may have asplenia caused by one specific non- Abdominal organs working gene, but in other families, a different non-work- SPLEEN As the name of the condition implies, the ing gene could cause the same condition to occur. The spleen in indi- 2001, the exact genes involved in causing asplenia have viduals with asplenia is either absent or does not develop not been identified. DIGESTIVE TRACT DISORDERS There are several It is estimated that the incidence of asplenia is low, abnormalities that can occur with the digestive tract in approximately one in 10,000 to one in 20,000 live births. The most common digestive More males are affected with the condition than females. Asplenia does not appear to occur more fre- present with symptoms of an obstruction in the digestive quently in certain ethnic groups. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 113 STOMACH Most individuals with asplenia have their Lungs stomach located on the right side or in the center of the Normally, the lungs are divided into lobes. In addition, individuals with on the right side of the body usually has three lobes and asplenia can have a “twisted” stomach that could result in the left lung typically has two lobes. In asplenia, each an obstruction in their digestive system and impair the lung usually has three lobes. There can be abnormalities in other systems of the LIVER Normally, the liver is located on the right side body as well, but they are not often seen in most individ- of the body and the shape of the liver is not symmetrical.

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