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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.
Hemophilia A, also called factor VIII (FVIII) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII, a clotting protein. Although it is passed down from parents to children, about 1/3 of cases are caused by a spontaneous mutation, a change in a gene. According to the US Centers for Disease Control and Prevention, hemophilia occurs in approximately 1 in 5,000 live births. There are about 20,000 people with hemophilia in the US. All races and ethnic groups are affected. Hemophilia A is four times as common as hemophilia B while more than half of patients with hemophilia A have the severe form of hemophilia.
A bone marrow biopsy is part of a bone marrow test that takes a sample of your solid bone tissue. This test looks for abnormalities in your blood cells and signs of any diseases. You can request anesthesia or a sedative before the biopsy, and manage any pain afterward with over-the-counter medications.
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.
-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.
Alcohol septal ablation (ASA, TASH, Sigwart procedure) is a percutaneous, minimally-invasive treatment performed by an interventional cardiologist to relieve symptoms and improve functional status in severely symptomatic patients with hypertrophic cardiomyopathy (HCM) who meet strict clinical, anatomic and physiologic ...
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.
surgical procedure used to remove excess skin and fat from the abdomen and to tighten the muscles of the abdominal wall. Most tummy tuck patients are dealing with the effects of pregnancies and weight loss and find themselves with loose skin in spite of exercise and weight control. Each year, thousands of Americans undergo a tummy tuck to tone, firm and define the abdominal area.