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IPEX (syndrome)
Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is a rare autoimmune disease. It is one of the autoimmune polyendocrine syndromes. Most often, IPEX presents with autoimmune enteropathy, dermatitis (eczema), and autoimmune endocrinopathy (most often Type 1 diabetes), but other presentations exist. IPEX is caused by mutations in the gene ''FOXP3'', which encodes transcription factor forkhead box P3 (FoxP3, FOXP3). FOXP3 is widely considered to be the master regulator of the regulatory T cell (Treg) lineage. ''FOXP3'' mutation can lead to the dysfunction of CD4+ Tregs. In healthy people, Tregs maintain immune homeostasis. When there is a deleterious ''FOXP3'' mutation, Tregs do not function properly and cause autoimmunity. IPEX onset usually happens in Infant, infancy. If left untreated, it is often fatal by the age of 2 or 3. A bone marrow transplant is generally considered the best treatment option. IPEX exclusively affects males and is inherite ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autoimmune Disease
An autoimmune disease is a condition that results from an anomalous response of the adaptive immune system, wherein it mistakenly targets and attacks healthy, functioning parts of the body as if they were foreign organisms. It is estimated that there are more than 80 recognized autoimmune diseases, with recent scientific evidence suggesting the existence of potentially more than 100 distinct conditions. Nearly any body part can be involved. Autoimmune diseases are a separate class from autoinflammatory diseases. Both are characterized by an immune system malfunction which may cause similar symptoms, such as rash, swelling, or fatigue, but the cardinal cause or mechanism of the diseases is different. A key difference is a malfunction of the innate immune system in autoinflammatory diseases, whereas in autoimmune diseases there is a malfunction of the adaptive immune system. Symptoms of autoimmune diseases can significantly vary, primarily based on the specific type of the d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thyroid Disease
Thyroid disease is a medical condition that affects the structure and/or function of the thyroid gland. The thyroid gland is located at the front of the neck and produces thyroid hormones that travel through the blood to help regulate many other organs, meaning that it is an endocrine organ. These hormones normally act in the body to regulate energy use, infant development, and childhood development. There are five general types of thyroid disease, each with their own symptoms. A person may have one or several different types at the same time. The five groups are: # Hypothyroidism (low function) caused by not having enough free thyroid hormones # Hyperthyroidism (high function) caused by having too many free thyroid hormones # Structural abnormalities, most commonly a goiter (enlargement of the thyroid gland) # Tumors which can be benign (not cancerous) or cancerous # Abnormal thyroid function tests without any clinical symptoms (subclinical hypothyroidism or subclinical hyper ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ileus
Ileus is a disruption of the normal propulsive ability of the intestine. It can be caused by lack of peristalsis or by mechanical obstruction. The word 'ileus' derives . The term 'subileus' refers to a partial obstruction. Signs and symptoms Symptoms of ileus include, but are not limited to: * moderate to severe, diffuse abdominal pain * constipation * abdominal distension * nausea/vomiting, especially after meals * vomiting of bilious fluid (green or yellowish-green in colour) * flatulence and/or lack of bowel movement * excessive belching Cause Decreased propulsive ability may be broadly classified as caused either by bowel obstruction or by intestinal atony or paralysis. However, instances with symptoms and signs of a bowel obstruction occur, but with the absence of a mechanical obstruction, mainly in acute colonic pseudo-obstruction, Ogilvie's syndrome. In 2023 the US FDA reported gastrointestinal ileus as an adverse effect of the medication semaglutide, with frequenc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ulcerative Colitis
Ulcerative colitis (UC) is one of the two types of inflammatory bowel disease (IBD), with the other type being Crohn's disease. It is a long-term condition that results in inflammation and ulcers of the colon and rectum. The primary symptoms of active disease are abdominal pain and diarrhea mixed with blood ( hematochezia). Weight loss, fever, and anemia may also occur. Often, symptoms come on slowly and can range from mild to severe. Symptoms typically occur intermittently with periods of no symptoms between flares. Complications may include abnormal dilation of the colon ( megacolon), inflammation of the eye, joints, or liver, and colon cancer. The cause of UC is unknown. Theories involve immune system dysfunction, genetics, changes in the normal gut bacteria, and environmental factors. Rates tend to be higher in the developed world with some proposing this to be the result of less exposure to intestinal infections, or to a Western diet and lifestyle. The remova ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coeliac Disease
Coeliac disease (British English) or celiac disease (American English) is a long-term autoimmune disorder, primarily affecting the small intestine. Patients develop intolerance to gluten, which is present in foods such as wheat, rye, spelt and barley. Classic symptoms include gastrointestinal problems such as chronic diarrhoea, abdominal distention, malabsorption, loss of appetite, and among children failure to grow normally. Non-classic symptoms are more common, especially in people older than two years. There may be mild or absent gastrointestinal symptoms, a wide number of symptoms involving any part of the body, or no obvious symptoms. Due to the frequency of these symptoms, coeliac disease is often considered a systemic disease, rather than a gastrointestinal condition. Coeliac disease was first described as a disease which initially presents during childhood; however, it may develop at any age. It is associated with other autoimmune diseases, such as Type 1 d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gastritis
Gastritis is the inflammation of the lining of the stomach. It may occur as a short episode or may be of a long duration. There may be no symptoms but, when symptoms are present, the most common is upper abdominal pain (see dyspepsia). Other possible symptoms include nausea and vomiting, bloating, loss of appetite and heartburn. Complications may include stomach bleeding, stomach ulcers, and stomach tumors. When due to autoimmune problems, low red blood cells due to not enough vitamin B12 may occur, a condition known as pernicious anemia. Common causes include infection with '' Helicobacter pylori'' and use of nonsteroidal anti-inflammatory drugs ( NSAIDs). When caused by ''H. pylori'' this is now termed ''Helicobacter pylori'' induced gastritis, and included as a listed disease in ICD11. Less common causes include alcohol, smoking, cocaine, severe illness, autoimmune problems, radiation therapy and Crohn's disease. Endoscopy, a type of X-ray known as an upper gast ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enteropathy
Enteropathy refers to any pathology of the intestine. Although enteritis specifically refers to an inflammation of the intestine, and is thus a more specific term than "enteropathy", the two terms are sometimes used interchangeably. __TOC__ Types Specific types of enteropathy include: * Enteropathy-associated T-cell lymphoma * Environmental enteropathy, also known as tropical enteropathy :An incompletely defined syndrome of inflammation related to the quality of the environment. Signs and symptoms include reduced absorptive capacity and reduced intestinal barrier function of the small intestine. It is widespread among children and adults in Developing country, low- and middle-income countries. * Eosinophilic gastroenteritis, Eosinophilic enteropathy :A condition in which eosinophils (a type of white blood cell) accumulate in the gastrointestinal tract and in the blood. Eosinophil build up in the gastrointestinal tract can result in Polyp (medicine), polyp formation, tissue break ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pancreas
The pancreas (plural pancreases, or pancreata) is an Organ (anatomy), organ of the Digestion, digestive system and endocrine system of vertebrates. In humans, it is located in the abdominal cavity, abdomen behind the stomach and functions as a gland. The pancreas is a mixed or heterocrine gland, i.e., it has both an endocrine and a digestive exocrine function. Ninety-nine percent of the pancreas is exocrine and 1% is endocrine. As an endocrine gland, it functions mostly to regulate blood sugar levels, secreting the hormones insulin, glucagon, somatostatin and pancreatic polypeptide. As a part of the digestive system, it functions as an exocrine gland secreting pancreatic juice into the duodenum through the pancreatic duct. This juice contains bicarbonate, which neutralizes acid entering the duodenum from the stomach; and digestive enzymes, which break down carbohydrates, proteins and lipids, fats in food entering the duodenum from the stomach. Inflammation of the pancreas is kno ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Insulin
Insulin (, from Latin ''insula'', 'island') is a peptide hormone produced by beta cells of the pancreatic islets encoded in humans by the insulin (''INS)'' gene. It is the main Anabolism, anabolic hormone of the body. It regulates the metabolism of carbohydrates, fats, and protein by promoting the absorption of glucose from the blood into cells of the liver, fat cell, fat, and skeletal muscles. In these tissues the absorbed glucose is converted into either glycogen, via glycogenesis, or Fatty acid metabolism#Glycolytic end products are used in the conversion of carbohydrates into fatty acids, fats (triglycerides), via lipogenesis; in the liver, glucose is converted into both. Glucose production and secretion by the liver are strongly inhibited by high concentrations of insulin in the blood. Circulating insulin also affects the synthesis of proteins in a wide variety of tissues. It is thus an anabolic hormone, promoting the conversion of small molecules in the blood into large ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Beta Cell
Beta cells (β-cells) are specialized endocrine cells located within the pancreatic islets of Langerhans responsible for the production and release of insulin and amylin. Constituting ~50–70% of cells in human islets, beta cells play a vital role in maintaining blood glucose levels. Problems with beta cells can lead to disorders such as diabetes. Function The function of beta cells is primarily centered around the synthesis and secretion of hormones, particularly insulin and amylin. Both hormones work to keep blood glucose levels within a narrow, healthy range by different mechanisms. Insulin facilitates the uptake of glucose by cells, allowing them to use it for energy or store it for future use. Amylin helps regulate the rate at which glucose enters the bloodstream after a meal, slowing down the absorption of nutrients by inhibit gastric emptying. Insulin synthesis Beta cells are the only site of insulin synthesis in mammals. As glucose stimulates insulin secretion, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neonatal Diabetes
Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body's ability to produce or use insulin. NDM is a kind of diabetes that is monogenic (regulated by a single gene) and arises in the first 6 months of life. Infants do not produce enough insulin, leading to an increase in glucose accumulation. It is a rare disease, occurring in only one in 100,000 to 500,000 live births. NDM can be mistaken for the much more common type 1 diabetes, but type 1 diabetes usually occurs later than the first 6 months of life. There are two types of NDM: permanent neonatal diabetes mellitus (PNDM), a lifelong condition, and transient neonatal diabetes mellitus (TNDM), a form of diabetes that disappears during the infant stage but may reappear later in life. Specific genes that can cause NDM have been identified. [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endocrinopathies
Endocrine diseases are disorders of the endocrine system. The branch of medicine associated with endocrine disorders is known as endocrinology. Types of disease Broadly speaking, endocrine disorders may be subdivided into three groups: # Endocrine gland hypofunction/hyposecretion (leading to hormone deficiency) # Endocrine gland hyperfunction/hypersecretion (leading to hormone excess) # Tumours (benign or malignant) of endocrine glands Endocrine disorders are often quite complex, involving a mixed picture of hyposecretion and hypersecretion because of the feedback mechanisms involved in the endocrine system. For example, most forms of hyperthyroidism are associated with an excess of thyroid hormone and a low level of thyroid stimulating hormone. List of diseases Glucose homeostasis disorders * Diabetes ** Type 1 Diabetes ** Type 2 Diabetes ** Gestational Diabetes ** Mature Onset Diabetes of the Young ** Diabetic myopathy * Hypoglycemia ** Idiopathic hypoglycemia ** Ins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
