
Type 1 Diabetes (T1D)
Millions of people around the world live with Type 1 diabetes, once known as juvenile diabetes or insulin-dependent diabetes. Although most diabetes patients have type 2 diabetes, an important minority suffer from type 1 (~5%). Contrary to popular belief, type 1 diabetes is not a childhood disease, and can occur at any age, in people of every race, shape and size.
Type 1 diabetes is a chronic condition in which the pancreas produces little or no insulin at all. Insulin is a hormone needed to allow sugar (glucose) to enter cells to produce energy.
The exact cause of type 1 diabetes is unknown but it usually involves the body’s own immune system — which normally fights harmful bacteria and viruses —mistakenly destroying the insulin-producing (islet, or islets of Langerhans) cells in the pancreas. Other possible causes include genetics or exposure to viruses and other environmental factors.
Despite active research, type 1 diabetes has no cure. Nowadays, treatment is focused on managing blood sugar levels with insulin, diet and lifestyle to prevent complications.
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The effects of the disease often vary. Some people have mild symptoms and don’t need any treatment while others will have trouble getting around and performing everyday tasks.
Multiple sclerosis (MS) is a neurological condition, meaning that it affects the nerves. While it is not contagious, its causes are not yet fully understood, and researchers are still searching for answers. The disease develops when one’s immune system is not working properly and attacks the nerves by mistake. More specifically, it attacks a fatty material called myelin, which wraps around the nerve fibres to protect them. Without this outer shell, the nerves become damaged and as they control so many different parts of the body, a wide range of MS symptoms in many parts of the body may arise. This is why MS affects people in different ways.
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Celiac Disease
When people with celiac disease eat gluten (a protein found in wheat, rye and barley), an immune response in the small intestine is triggered. Over time, this reaction damages the small intestine’s lining and prevents absorption of certain nutrients. The intestinal damage often causes diarrhoea, fatigue, weight loss, bloating and anaemia, and can lead to serious complications. In children, malabsorption can affect growth and development, in addition to the symptoms observed in adults.
Celiac disease is hereditary. Its main causes may come from an interaction between genes, eating foods with gluten and other environmental factors, but the precise cause isn’t known. Infant feeding practices, gastrointestinal infections and gut bacteria might contribute to celiac disease. Celiac disease is sometimes triggered — or becomes active for the first time — after surgery, pregnancy, childbirth, viral infection or severe emotional stress.
Some gene variations appear to increase the risk of developing the disease. But these do not necessarily mean that someone will get it, which suggests that additional factors must be involved.
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RA identification in the early stages is essential to prevent erosion and to stop the progression of radiologic changes. Nowadays known biomarkers are: rheumatoid factor, anti-citrullinated peptide antibodies (ACPA; anti-Cyclic Citrullinated Peptides (CCP) and anti-Mutated Citrullinated Vimentin (MCV) being the most abundant), 14.3.3 eta protein, anti-carbamilated proteins, erythrocytes sedimentation rate (ERS), and C-reactive Protein (CRP).
Prior to 1998, treatment options were limited to small-molecule disease-modifying therapies such as methotrexate, sulfasalazine. However, approximately 33% of all patients are unresponsive to these first-line drugs. The approval of revolutionary biological therapies, including Enbrel, Remicade, and Humira, for the treatment of patients that are refractory to methotrexate has expanded the range of treatment possibilities. Nevertheless, many patients also fail to respond to second-line therapies. In addition, there remains a significant unmet need in terms of safer drug profiles and a convenient route of administration.
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Myasthenia Gravis
Around 80% of the patients with MG present antibodies against the receptor of acetylcholine (anti-RAch) of the neuromuscular junction. 5% of the patients present antibodies against the specific muscular kinase (anti-Musk). Both antibodies are pathogenic and highly specific for MG. However, in a 10% of the cases the patients do not present antibodies against any of these two proteins, although they also response favourably with immunosuppressive treatment.
Current treatment options for MG include autologous stem cell transplants, intravenous therapies, surgery, and medications such as cholinesterase inhibitors and immunosuppressants. However, despite the efforts made until now Myasthenia gravis remains an incurable disease.
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Interstitial lung disease is more prevalent and more severe in patients with anti-synthetase syndrome compared to dermatomyositis and polymyositis, inflammatory myopathies with which it may overlap phenotypically.
Diagnosis is made using a multidisciplinary approach, encompassing both serological, radiographic results with rheumatology and pulmonary evaluations.
Patients with anti-synthetase syndrome often require multimodal immunosuppressive therapy to control pulmonary and/or muscular manifestations of the disease. Long-term care of these patients requires high attention to the adverse effects and complications of chronic immunosuppressive therapy, as well as the disease related sequelae that may include progressive interstitial lung disease that may require lung transplantation, pulmonary hypertension, malignancy, and decreased survival.
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Neuromyelitis Optica
Patients present with acute, often severe, attacks of blindness and paraparesis or quadriparesis, accompanied by sensory and sphincter impairments. Most patients have relapsing attacks separated by months or years with partial recovery. A relapsing course is more frequent in women, and nearly 90% of patients are female. Patients with NMO frequently have other systemic autoimmune disorders, such as systemic lupus erythematosus (SLE), Sjögren’s syndrome or myasthenia gravis.
Patients may fully recover from individual attacks, but residual neurological deficits are common and sometimes severe. A high proportion of patients will become legally blind in one or both eyes and/or have substantial residual paraparesis. Nowadays, immunosuppressive therapy seems to be the most effective treatment for these patients, although it shows a partial effect on the attack rate.
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