GENETIC DISEASE

Genetic Disease Diagnosis, Screening, and Treatment

Genetic Disease Diagnosis, Screening, and Treatment

Introduction

The patient's fetus in the given case is suffering from Tay-Sachs disease which is a genetic disease. TSD involves damage or blockage in blood vessels away from the heart, Peripheral arteries and veins. Peripheral arteries and veins carry blood to and from the muscles of the arms and legs and abdominal organs. TSD may also affect the arteries that carry blood to the head. Causes of arterial blockages include when too much plaque in an artery, the artery is blocked and blood flow slows or stops. Decreased blood flow may cause an "ischemia", i.e., an inadequate supply of oxygen to body cells.

Signs and Symptoms includes that Patients may feel pain in the calves, thighs or buttocks, depending on where the blockage. In general, the intensity of pain is a sign of the severity of the obstruction. In severe cases, it is possible that the toes become blue, the feet are cold and the pulse is weak in the legs. In some cases it could result in death of tissue (so-called "gangrene") and be required amputation.

Sometimes the patient may feel cramping in the legs when walking, and the pain usually worsens with increasing physical activity. Also, patients with TSD have symptoms such as: Slow healing of abrasions of the leg or foot, poor blood circulation in the feet (cold feet, pale or bluish). The symptoms of intermittent claudicating depend on whether the narrowing of the arteries has been gradually or abruptly. The main symptom of disease of the arteries of the lower extremities is a pain in the legs when walking. Pain may occur in the thighs, buttocks, knees, legs and feet, depending on the level of arterial leg.

Doctors can diagnose an arterial obstruction based on symptoms described by the patient and checking the pulse in the arteries of the feet to determine if it is weak. The diagnosis can be confirmed by the following studies: Ultrasound (or ultrasound)-a test that uses sound waves is to produce an image of blood flow through arteries. Arteriography is a test that can be done if the doctor believes that the obstruction is severe enough to require a transcatheter intervention or surgery. The study involves injecting a dye into the arteries harmless to determine the severity of obstruction and its location.In case of a much clogged artery that causes pain or other symptoms, it may be necessary to perform transcatheter intervention (a balloon angioplasty or stent placement).

For the diagnosis of Mrs. Baker, Assay of cholesterol and triglycerides (and research potential of HDL cholesterol (HDL-C) and apolipoprotein A1 possibly) after 12 hours of fasting (2 times at least, remote from any acute illness, drug and without interference). It can be induced by an abnormal rise in blood sugar and / or fat in the blood (diabetes mellitus), a hormonal imbalance (specifically the thyroid), kidney failure or complex hepatobiliary (liver / bile). The use of estrogen- (contraceptive pill) can also cause ...