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By H. Hamid. Washington Bible College / Capital Bible Seminary. 2018.

The danger of retinal The symptoms of Marfan syndrome in some patients detachment is an important reason for patients to avoid resemble the symptoms of homocystinuria buy cheap viagra plus 400mg erectile dysfunction injections youtube, which is an contact sports or other activities that could cause a blow inherited disorder marked by extremely high levels of on the head or being knocked to the ground generic viagra plus 400mg with amex erectile dysfunction treatment california. Striae are stretch marks in the skin caused by referred to as marfanoid syndromes. Patients with Marfan Treatment and management often develop striae over the shoulders, hips, and lower back at an early age because of rapid bone growth. The treatment and management of Marfan syndrome Although the patient may be self-conscious about the is tailored to the specific symptoms of each patient. This disturbed breathing pattern drome, he or she should be monitored with an echocar- increases the risk of aortic dissection. If the echocardiogram does not allow the physician to visualize all portions of the Presently, there is no objective diagnostic test for aorta, CT (computed tomography) or MRI (magnetic res- Marfan syndrome, in part because the disorder does not onance imaging) may be used. A patient may be given drugs called ing the FBNI gene through a process called mutational beta-blockers to slow down the rate of aortic enlargement analysis, it is presently not useful as a diagnostic test and decrease the risk of dissection by lowering the blood because there is evidence that there can be mutations in pressure and decreasing the forcefulness of the heartbeat. The most commonly used beta-blockers in patients with Similarly, there is no reliable prenatal test, although some Marfan are propranolol (Inderal) and atenolol physicians have used ultrasound to try to determine the (Tenormin). Patients who are allergic to beta-blockers length of fetal limbs in at-risk pregnancies. The examination should include an prophylactic dose of an antibiotic before having dental echocardiogram taken by a cardiologist, a slit-lamp eye work or minor surgery, as these procedures may allow examination by an ophthalmologist, and a work-up of the bacteria to enter the bloodstream. Patients with Marfan with a composite graft, which is a prosthetic heart valve syndrome should consider wearing shoes with low heels, sewn into one end of a Dacron tube. Foot surgery is been performed widely since about 1985; most patients rarely necessary. Visual and dental concerns Patients who have had a valve replaced must take an Patients with Marfan syndrome should have a thor- anticoagulant medication, usually warfarin (Coumadin), ough eye examination, including a slit-lamp examination, in order to minimize the possibility of a clot forming on to test for dislocation of the lens as well as nearsighted- the prosthetic valve. Dislocation can be treated by a combination of spe- cial glasses and daily use of 1% atropine sulfate ophthalmic drops, or by surgery. Musculoskeletal system Because patients with Marfan syndrome are at Children diagnosed with Marfan syndrome should be increased risk of glaucoma, they should have the fluid checked for scoliosis by their pediatricians at each annual pressure inside the eye measured every year as part of an physical examination. Glaucoma can be treated with medica- bend forward while the back is examined for changes in tions or with surgery. The curve is measured in degrees by the angle ment at medical centers with eye surgeons familiar with between the vertebrae as seen on the x ray. Curves of 20° the possible complications of cataract surgery in patients or less are not likely to become worse. Curves of 40° or more are highly likely to worsen, to recognize the signs of retinal detachment (sudden even in an adult, because the spine is so badly imbalanced blurring of vision in one eye becoming progressively that the force of gravity will increase the curvature. The child must wear this appli- Children with Marfan should be evaluated by their ance about 23 hours a day until growth is complete. If the dentist at each checkup for crowding of the teeth and pos- spinal curvature increases to 40° or 50°, the patient may sible misalignment, and referred to an orthodontist if nec- require surgery in order to prevent lung problems, back essary. Surgical treatment of scolio- People with Marfan syndrome should avoid sports or sis involves straightening the spine with metal rods and occupations that require heavy weight lifting, rough fusing the vertebrae in the straightened position. Weight lifting increases blood Spondylolisthesis is treated with a brace in mild pressure, which in turn may enlarge the aorta. If the slippage is more than 30°, the slipped verte- physical contact may cause retinal detachment. Dural ectasia can be distinguished from other causes Regular noncompetitive physical exercise, however, is of back pain on an MRI. Medication or spinal shunting to remove some of ing, shooting baskets, and slow-paced tennis. Social and lifestyle issues Pectus excavatum and pectus carinatum can be treated by surgery. In pectus excavatum, the deformed Smoking is particularly harmful for patients with breastbone and ribs are raised and straightened by a metal Marfan because it increases their risk of emphysema. After four to six months, the bar is removed in an Until very recently, women with Marfan syndrome outpatient procedure.

An episode of rapid viagra plus 400 mg sale erectile dysfunction medication patents, wild 400mg viagra plus overnight delivery impotence erectile dysfunction, and uncoordinated heart muscle contractions is called fibrillation (fih-brih-LA-shun), which may involve the atria only or both the atria and the ventricles. It must be corrected by a defibrillator, a device that generates a strong electri- cal current to discharge all the cardiac muscle cells at once, allowing a normal rhythm to resume. The Ameri- Myocardial Infarction In the heart, thrombus forma- can Heart Association is adding training in the use of the tion results in a life-threatening condition known as coro- automated external defibrillator (AED) to the basic nary thrombosis. Because 14 Work is underway to place machines in shopping centers, the area of tissue damaged in a heart attack is described sports venues, and other public settings. The symptoms of MI commonly include the blood flow to the ischemic areas by administering throm- abrupt onset of severe, constricting chest pain that may bolytic (throm-bo-LIT-ik) drugs, which act to dissolve radiate to the left arm, back, neck or jaw. Therapy must be perience shortness of breath, sweating, nausea, vomiting, given promptly to prevent permanent heart muscle dam- or pain in the epigastric region, which can be mistaken age. Healthcare workers monitor people die within the first hour after onset of symptoms, heart rhythm and give medications to maintain a func- but prompt, aggressive treatment can improve outcomes. Some patients require surgery, such as angio- chest pain, stabilize the heart rhythm, and reopen the plasty to reopen vessels or a vascular graft to bypass dam- blocked vessel. Complete and prolonged lack of blood to aged vessels; others may need an artificial pacemaker to any part of the myocardium results in tissue necrosis and maintain a normal heart rhythm. Recovery from a heart attack and resumption of a nor- Angina Pectoris Inadequate blood flow to the heart mal lifestyle is often possible if the patient follows his or muscle causes a characteristic discomfort, called angina her prescribed drug therapy plan and takes steps to re- pectoris (an-JI-nah PEK-to-ris), felt in the region of the duce cardiac risk factors. Angina pectoris may be accompanied by a feeling of suffocation and a Checkpoint 14-13 Narrowing or blockage of the vessels that general sensation of forthcoming doom. People can live with compensated heart failure by attention to diet, drug ther- Risk factors that can be changed include the following: apy, and a balance of activity and rest. These arterial changes result in decreased ◗ The Heart in the Elderly blood flow and poor supply of oxygen and nutrients to There is much individual variation in the way the heart heart muscle. Because of the decrease in the reserve strength of the heart, elderly people are often Efforts to prevent heart disease should include having limited in their ability to respond to physical or emotional regular physical examinations and minimizing the con- stress. HDLs remove found in bile salts needed for digestion of fats, in hormones, cholesterol from the tissues, such as the walls of the arteries, and and in the plasma membrane of the cell. Thus, high levels of cholesterol in the blood have been associated with athero- of HDLs indicate efficient removal of arterial plaques, whereas sclerosis and heart disease. Cholesterol is Saturated fatty acids (found primarily in animal fats) raise transported in the blood in combination with other lipids and LDL levels, while unsaturated fatty acids (found in most veg- with protein, forming compounds called lipoproteins. Thus, a diet lower in saturated fat and higher in unsatu- density lipoprotein (HDL) is about one-half protein, whereas rated fat may reduce the risk of atherosclerosis and heart low-density lipoprotein (LDL) has a higher proportion of cho- disease. The ultrasound waves bounce off the The electrocardiograph (ECG or EKG) is used to heart and are recorded as they return, showing the heart record electrical changes produced as the heart muscle in action. In right heart catheteri- Heart specialists employ medical and surgical approaches zation, an extremely thin tube (catheter) is passed to the treatment of heart disease, often in combination. A fluoroscope (flu-OR- Medications o-scope), an instrument for examining deep structures One of the oldest drugs for heart treatment, and still the with x-rays, is used to show the route taken by the most important drug for many patients, is digitalis (dij-ih- catheter. Blood samples muscle contractions, is obtained from the leaf of the fox- 14 are obtained along the way for testing, and pressure glove, a plant originally found growing wild in many parts readings are taken. Slow calcium-channel blockers aid in the treatment Ventricular Atrial of coronary heart disease and hypertension by several repolarization depolarization mechanisms. They may be used to prevent clot formation in patients with damage to heart valves or S blood vessels or in patients who have had a myocardial in- mm time (sec) 0. Aspirin (AS-pir-in), chemically known as acetyl- Ventricular depolarization salicylic (a-SE-til-sal-ih-sil-ik) acid (ASA), is an inexpen- sive and time-tested drug for pain and inflammation that Figure 14-16 Normal ECG tracing. ZOOMING IN ✦ What is the length of A small daily dose of aspirin is recommended for patients the cardiac cycle shown in this diagram with angina pectoris, those who have suffered a myocardial 300 ✦ CHAPTER FOURTEEN infarction, and those who have undergone surgery to open anormal rhythm. The for people with bleeding disorders or gastric ulcers, be- restoration of a normal heartbeat either by electric shock cause aspirin irritates the lining of the stomach. In cases of severe tachy- If the SA node fails to generate a normal heartbeat or there cardia, tissue that is causing the disturbance can be de- is some failure in the cardiac conduction system, an elec- stroyed by surgery or catheterization. A dual chamber pacemaker has a lead in each machine siphons off the blood from the large vessels chamber to coordinate beats between the atrium and ven- entering the heart on the right side, so that no blood tricle. The effectiveness of Tip of lead this procedure diminishes over a pe- lodged in apex riod of years, however, owing to of right ventricle blockage of the replacement vessels. Less invasive surgical procedures Pacemaker placed include the technique of angioplasty beneath skin (AN-je-o-plas-te), which is used to in pectoral region open restricted arteries in the heart and other areas of the body. There, the THE HEART AND HEART DISEASE ✦ 301 Left subclavian artery Internal mammary Vein graft artery Anterior descending branch of the left coronary artery A B Figure 14-18 Coronary artery bypass graft (CABG) (A) This graft uses a segment of the saphenous vein to carry blood from the aorta to a part of the right coronary artery that is distal to the occlusion.

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Proceedings of the National Academy of Sciences of the United States of America Quest Human Mutations International Mitochondrial Disease Network purchase viagra plus 400mg otc erectile dysfunction in 20s. A phenomenon of Raynaud disease occurs when blood flow is temorarily interrupted buy viagra plus 400 mg on-line erectile dysfunction age onset, causing extremities to become pale due to poor blood circulation. Thus, unless a patient assumes a regular eating pattern, repeated and periodic liberation of phytanic acid stores results in greater tissue damage and symptom development. For these same reasons, intentional weight loss though calorie- restricted diets or vigorous exercise is discouraged. Plasmapheresis is a procedure by which determined amounts of plasma (the fluid component of blood that contains phytanic acid) is removed from the blood and replaced with fluids or plasma that do not con- tain phytanic acid. Regular utilization of this technique allows people who fail to follow a restricted diet to main- tain lower phytanic acid levels and experience less tissue Renal failure (kidney failure) is caused primarily by damage and symptoms. Hypertension is the second major cause, after dia- larly by a multidisciplinary team of health care providers, betes, of end stage renal disease (ESRD) and is responsi- including a pediatrician, neurologist, ophthalmologist, ble for 25–30% of all reported cases. In addition, many cardiologist, medical geneticist specializing in metabolic people with diabetes also have hypertension, thus high disease, nutritionist, and physical/occupational therapist. People with Refsum disease, or those who are carriers of the abnormal gene or who have an relative with the dis- order, can be referred for to assist in About 398,000 people were diagnosed with end- making reproductive decisions. That same year, approximately 63,000 people with ESRD passed The prognosis of Refsum disease varies dramati- away. The disorder is slowly progressive and, if left long time and may have had kidney disease (nephropa- untreated, severe symptoms will develop with consider- thy) for as many as 20 years or more prior to experienc- ably shortened life expectancy. Unfortunately, treatment cannot undo exist- to kidney failure have a genetic element. Animal studies have been done to find genetic linkages to hypertension and kidney “Peroxisomal Disorders. This is a gene that plays a role in sodium retention role of therapeutic apheresis in its management. In another study, researchers studied an Israeli fam- “Entry 266500: Refsum Disease. They Oren Traub, MD, PhD also hypothesized that the gene encoding atrial natriutetic —An abnormally small head. The bones that constitute the middle of the arm are the radius and ulna, and mesomelic bones of the leg are the tibia and fibula. Severe growth Pulsed-dye laser therapy has been used to treat the delays result in short stature throughout life. Keratolytic drugs are used to cause thick skin underdeveloped (hypoplastic) or absent thumbs, and/or to swell, soften, and then fall away. Hypogonadism, the deficient activity of the ovaries in females or testes in males, causes irreg- ular menstruation in females, and delayed sexual devel- opment and reduced fertility in both males and females. Individuals with Rothmund-Thomson syndrome Facial skeletal abnormalities include a triangular- usually have a normal life span, although an increased shaped face with a prominent forehead (frontal boss- risk for bone and skin cancer has been found. Most ing), a sunken nasal bridge (saddle nose), and a affected individuals will have normal intelligence, how- protruding lower jaw (prognathism). Scalp hair is usu- ever learning disabilities and mental retardation have ally thin and fine, although alopecia (balding) occasion- been reported in a small number of patients. Dental abnormalities include excessive cavities, unusually small teeth (microdontia), or delayed or failure of teeth to erupt. Mutations of the RecQL4 gene have National Organization for Rare Disorders (NORD). Sherak, MS, CHES Essential management of Rothmund-Thomson syn- drome includes avoiding sun exposure and diligently using sunscreen that has both UVA and UVB protection. An ophthalmologic evaluation for the detection and management of cataracts is recommended for affected people on an annual basis up to age 15. Because skin cancer is a risk, it is important to mon- itor the affected individual closely for lesions with Psychological Reports shallow and the cheekbones are flat. This makes the eyes Some of the more severely affected individuals with more prominent, and spaced further apart than normal. Saethre-Chotzen may experience problems with their Adding to the unevenness of the face is drooping of the vision. There may be less space in the eye socket due to upper eyelids, and a slight down slant to the eyes.

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