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Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. marfan_general_2.jpg What is Marfan Syndrome?Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders. Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.
Pain in the affected bone is the most common complaint of patients with bone cancer. At first, the pain is not constant. It may be worse at night or when the bone is used (for example, leg pain when walking). As the cancer grows, the pain will be there all the time. The pain increases with activity and the person might limp if a leg is involved.
A visual prosthesis, often referred to as a bionic eye, is an experimental visual device intended to restore functional vision in those suffering from partial or total blindness. In 1983 Joao Lobo Antunes, a Portuguese doctor, implanted a bionic eye in a person born blind.
Indwelling urinary catheters are commonly used in hospitals and can lead to preventable catheter-associated UTI. How can rates of catheter-associated UTI be reduced in hospitals? New research findings are summarized in a new NEJM Quick Take. Learn more at http://nej.md/1WoeHdF SHOW MORE
In cases when the presentation is unclear, ultrasonography is the imaging methodology of choice. The characteristic finding is the presence of a "target sign". Ultrasonography is not required in patients with obvious clinical diagnosis (as seen in this patient). Such patients can proceed directly to treatment with diagnostic and therapeutic air (pneumatic) or water-soluble (hydrostatic contrast) enema.
-Intrapartum antibiotic prophylaxis for mothers colonized with group B Streptococcus can prevent early-onset neonatal disease. Adequate prophylaxis consists of ampicillin, penicillin, or cefazolin for ;::4 hours before delivery. Regardless of intrapartum treatment, all high-risk infants must be observed for ;::49 hours. A complete blood count with differential and blood culture are indicated if the infant is preterm <37 weeks or was exposed to prolonged rupture of membranes.>18 hrs.
Defibrillation is a treatment for life-threatening cardiac dysrhythmias, specifically ventricular fibrillation (VF) and non-perfusing ventricular tachycardia (VT). A defibrillator delivers a dose of electric current (often called a countershock) to the heart.
An antisperm antibody test looks for special proteins (antibodies) that fight against a man's sperm in blood, vaginal fluids, or semen. The test uses a sample of sperm and adds a substance that binds only to affected sperm. Semen can cause an immune system response in either the man's or woman's body. The antibodies can damage or kill sperm. If a high number of sperm antibodies come into contact with a man's sperm, it may be hard for the sperm to fertilize an egg. The couple has a hard time becoming pregnant. This is called immunologic infertility.
PIP breast implants exchanged with Nagor 4th generation silicone implants by plastic surgeon Adrian Richards at Aurora clinics in Milton Keynes. During PIP removal procedure, the implants appear in good shape, but as with majority of PIP implants, evidence of silicone gel bleed is found inside the patient's breast pocket, as well as free silicone which caused pain and discomfort to this patient.
A stapled haemorrhoidopexy is an operation to return the haemorrhoids to a normal. position inside the rectum (back passage). A circular shaped stapling device is gently. inserted in the back passage. The surgeon is then able to use the device to remove.