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NHLBI

Alpha-1 Antitrypsin Deficiency - Causes

inflammation  liver  Protein  lungs 

Alpha-1 antitrypsin (AAT) deficiency happens when you do not make enough AAT protein. The AAT protein is made in your liver. This protein enters your blood and protects your organs, including the lungs, from damage. For example, your immune system is your body’s defense against bacteria and viruses but if it is overactive, it can damage your body while fighting diseases. The AAT protein prevents you from having too much inflammation in your lungs. Without enough AAT protein, your immune system may damage your lungs and lead to lung disease.

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NIH - Office of Research on Women's Health

Methods & Techniques for Integrating Sex into Research

One of the fundamental variables in preclinical biomedical research is sex: whether a cell, tissue, or animal is female or male. Biological sex is an important consideration for this research that underlies drug development, clinical trials, and prevention approaches.

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NIH - Office of Research on Women's Health

NIH Policy on Sex as a Biological Variable

NIH expects that sex as a biological variable will be factored into research designs, analyses, and reporting in vertebrate animal and human studies. Strong justification from the scientific literature, preliminary data, or other relevant considerations must be provided for applications proposing to study only one sex.

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NHLBI

Marfan Syndrome – Living With

MFS 

If you have been diagnosed with Marfan syndrome, it is important to follow your treatment plan, make healthy lifestyle changes, and get mental health support. Learn how to prevent or reduce complications in the future. If you are thinking about becoming pregnant, discuss the possible risks with your doctor.

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NHLBI

Marfan Syndrome - Treatment

MFS 

While Marfan syndrome has no cure, treatments can help delay or prevent complications, especially when started early. The type of treatment you receive will depend on what parts of your body are affected and the severity of your condition. You may have a team of doctors and specialists to coordinate your care.

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NHLBI

Marfan Syndrome - Signs, Symptoms, and Complications

MFS 

Signs and symptoms of Marfan syndrome depend on which parts of the body are affected and the severity of the condition. Some people have few or no signs or symptoms, while others experience severe symptoms or life-threatening complications.

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NHLBI

Marfan Syndrome - Screening and Prevention

MFS 

If you have a known family history of Marfan syndrome or physical features of the condition, your doctor may recommend screening to find the condition early. Relatives of people who have Marfan syndrome may also want to have genetic screening. There is no way to prevent Marfan syndrome.

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NHLBI

Marfan Syndrome - Causes

MFS 

Marfan syndrome is a genetic condition caused by a mutation, or change, in one of your genes, called the fibrillin-1 (FBN1) gene. The FBN1 gene makes fibrillin-1, which is a protein that forms elastic fibers within connective tissue. Fibrillin-1 also affects levels of another protein that helps control how you grow.

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NHLBI

Pleural Disorders - Treatment

empyema  hemothorax  pleural effusion  pneumothorax 

How your pleural disorder is treated depends on what type of pleural disorder you have and how severe it is. Some pleural disorders go away without treatment. Others will require a procedure to remove air, fluid, or other material from the pleural space. The goal of treatment is to relieve symptoms and treat the underlying condition.

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NHLBI

Pleural Disorders - Diagnosis

empyema  hemothorax  pleural effusion  pneumothorax 

Your doctor may diagnose a pleural disorder based on your medical history, a physical exam, and diagnostic tests and procedures. Before diagnosing you with a pleural disorder, your doctor will rule out other medical reasons or conditions that may be causing your signs and symptoms.

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