Alpha 1 Antitrypsin Research Paper

There are many tests are used to diagnosis patients with Crohn's disease. Blood tests are usually ordered, but cannot confirm Crohn's disease without further testing. Blood tests often show inflammation in the body. Anemia is common among patients that have Crohn's disease. A colonoscopy is required to help confirm if the Patient has Crohn's disease. Most patients will have abnormalities in the intestinal lining if they have Crohn’s disease. Some Tests that are commonly used is an upper endoscopy (EGD), X-ray of intestines, CT scan, and an MRI. Crohn’s Disease is also known to be genetic.

The diagnosis of the inherited metabolic disorders is conducted by routine testing and is normally present at childbirth. Although this test is not conducted at childbirth many states are improving there testing systems with use of improved technology. Thus, if the disorder is not detected at birth may go undiagnosed until the symptoms present themselves on the patient, then a blood or DNA test can be conducted to find out what type of disorder it is.

You can be tested for it while your mother is pregnant. Or, you can be tested as a carrier of Familial Dysautonmia. It mostly affects Ashkenazi (Eastern European) Jewish People, 1 in 27 of this ethnic group are carrying it. A carrier is a person who does not show the gene, but can potentially pass it on to their children.

There is no cure for this condition, but treatment can help with symptoms. Treatment may include:

However, there are tests that can be done to help make the diagnosis. They can do a blood test that will let them know the levels of the vitamin b1. Liver and electrolyte levels will also be checked along with vitamin b1 levels. If the doctors are thinking it is WKS and there is a severe lack of that specific vitamin, they know they are going in the right direction. They can give do an EKG, give you an injection of vitamin b1, and then do another EKG to see the difference and abnormalities before and after the injection. They can also do a CT scan to check for brain lesions.

There is no cure for AHC. However, some treatments can prevent and manage attacks. You may work with a team of medical specialists to come up with the best care plan for your child. Help from special education therapists, physical therapists, nutrition experts, and mental health professionals can improve your child’s quality of life. Your child may also need to take medicines, such as:

This paper discusses the Alpha-1 Antitrypsin Deficiency (AATD), which is a deficiency of Alpha-1 Antitrypsin (AAT) in the plasma. This protein helps prevent damage caused by neutrophil elastase, which fights against infection. The hereditary condition will be explained along with each of the alleles involved in the genes, Z, M, and S. AAT can be found on chromosome 14. AATD causes symptoms such as: cirrhosis of the liver, liver failure, jaundice, panniculitis, COPD, early-onset emphysema, and vasculitis. The treatments that will be discussed are: augmentation therapy, liver transplant, and intravenous therapies. Lastly, I will explain why testing for the genetic condition is important.

The test uses immunofluorescent antinuclear antibodies to check for nuclei of a patient's cells [68]. A blood serum sample is taken from the patient and placed on a slide with specific cells that can be from a rodent or other human tissue cell lines[68]. If antinuclear antibodies are present, then the serum will interact with the cells and when a secondary antibody is added, it will fluoresce [68]. 98% of SLE patient present with positive ANA tests but it is also seen in 5-10% of people without SLE [68]. Other antibodies such as anti-double stranded DNA (anti-dsDNA), anti-Smith (anti-Sm), anti-U1RNP, anti-histone, anti-Ro/SSA and anti-La/SSB are generally checked after a positive confirmation from the antinuclear test [68]. Less than 1% of individuals have anti-dsDNA antibodies, compared to 30% of in people with SLE[68]. Anti-Sm antibodies are rarely found in healthy individuals and is present in about 20% of patients with SLE [68]. Anti-U1RNP antibodies are usually found with anti-Sm antibodies, and close to 25% of SLE patients are seen with this antibody [68]. Anti-histone, anti-Ro/SSA and anti-La/SSB antibodies are not specifically linked to SLE but are usually found in SLE patients

Inherited syndromes of the adrenal gland, such as congenital adrenal hyperplasia. This condition is due to a defect in a protein (enzyme) that results in low production of the hormone cortisol.

Mutations in the AAAS gene cause triple A syndrome. The gene locates in the long arm of chromosome 12 at position 13. The AAAS gene encodes a protein known as ALADIN. It was found in the nuclear envelope that surrounds the nucleus and separates it form the rest of the cell. According to the location of ALADIN protein, we suppose that it functioned in the movement of molecules into and out of the nucleus. However, the mutation of AAAS gene leads to the situation that ALADIN protein can not reach its proper location in the nuclear envelope. With no ALADIN at the location that it should be in, the movement of molecules may be disrupted. It then leads to the symptoms of the triple A syndrome. I find an article that analyzes the genetic mutation of the patient in detail, which can help us understand the effect of genetic mutation more

Fabry disease is a condition caused by a genetic mutation. It is passed down (inherited) from a parent who carries the gene mutation for Fabry disease. The gene mutation changes an enzyme that breaks down a certain type of lipid, called globotriaosylceramide, and prevents it from breaking down the lipid. This causes excess lipids to build up in cells in certain organs of the body and the nervous system.

People who have Alpa and Beta Thalessemia trait have mild anemia. Most people are asymptomatic except feeling of tiredness.

Achondroplasia can be found during pregnancy with a fetal ultrasound. DNA testing has become more common over the past few years. It is used before birth for parents who have a higher chance at having a child with the homeostatic imbalance. Genetic testing is used when a doctor suspects something wrong. The tests search for the abnormal gene from a sample of amniotic fluid. If no signs of achondroplasia are found during pregnancy, the doctor will check the child’s features by looking at their legs, arms, and head to see if they

The individuals with severe deficiency of Alpha 1 antitrypsin a major inhibitor of serum proteases have an increased risk of developing COPD .Alpha 1 antitrypsin is a protein in blood and its genetic deficiency can cause COPD .The deficiency of AAT is an autosomal hereditary disease with lesser availability of AAT in lungs and blood ,which is responsible for non inhibition of neutrophil elastase .The resultant relative imbalance of neutrophil elastase causes development of pan lobular emphysema as early as in 3rd -4th decade of life .AAT is considered deficient when its blood level is less than 35 % of normal value .(150 -350 mg /dl ) .(42)

A healthy and fit lifestyle also means you have to maintain a healthy liver. Aside from eating a balanced diet and receiving proper nutrition you also need to take a dietary supplement to help protect your liver from damage and toxins. The Fharmonat Hep D-Ges is a great product to help support a normal functioning liver.