Cryopyrin-Associated Periodic Syndromes
Familial Mediterranean Fever
Hereditary Autoinflammatory Diseases
Receptors, Tumor Necrosis Factor, Type I
Schnitzler Syndrome
Mevalonate Kinase Deficiency
Caspase 1
Interleukin-1beta
Receptors, Tumor Necrosis Factor
Carrier Proteins
Hearing Loss, Mixed Conductive-Sensorineural
Interleukin 1 Receptor Antagonist Protein
Mutation
Serum Amyloid A Protein
Hypergammaglobulinemia
Penetrance
Amyloidosis
Arthritis, Gouty
Pedigree
Cytoskeletal Proteins
Antigens, CD
Inflammation
Down Syndrome
Metabolic Syndrome X
Interleukin-18
Macrophages
Connexins
Nephrotic Syndrome
Sjogren's Syndrome
Enzyme Activation
Mice, Knockout
Turner Syndrome
The inherited autoinflammatory syndrome: a decade of discovery. (1/51)
The hereditary autoinflammatory diseases arise from mutations of genes regulating the innate immune system. These rare disorders are well characterized, both clinically and in terms of their molecular pathogenesis. The recurrent attacks of febrile polyserositis of Familial Mediterranean Fever (FMF) are due to defective pyrin, a protein that down-regulates inflammation. The Hyperimmunoglobulinemia D Syndrome (HIDS), which mimics FMF, results from a genetically conferred deficiency of mevalonate kinase. TRAPS (TNF Receptor Associated Periodic Syndrome), formerly known as Familial Hibernian Fever, is caused by a defective membrane receptor for TNF. Three other hereditary disorders which overlap in their clinical expression - Familial Cold Autoinflammatory Syndrome, the Muckle Wells syndrome, and Neonatal Onset Multisystem Inflamatory Disease (NOMID) - are a consequence of gain-of-function mutations of the gene encoding cryopyrin, the scaffolding protein of the inflammasome. The PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum, Acne) results from mutations of a gene that increases the binding of its product (PSPSTPIP1) to pyrin, thereby blunting the inhibitory effect of pyrin on inflammasome activation. (+info)The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever. (2/51)
(+info)Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. (3/51)
(+info)Canakinumab. (4/51)
Canakinumab (ACZ885, Ilaris) is a human anti-IL-1beta monoclonal antibody developed by Novartis. Its mode of action is based on the neutralization of IL-1beta signaling, resulting in suppression of inflammation in patients with disorders of autoimmune origin. In June 2009 the drug was approved by the US Food and Drug Administration for the treatment of familial cold auto-inflammatory syndrome and Muckle-Wells syndrome, which are inflammatory diseases related to cryopyrin-associated periodic syndromes. The drug is currently being evaluated for its potential in the treatment of rheumatoid arthritis, systemic-onset juvenile idiopathic arthritis, chronic obstructive pulmonary disease, type 1 and 2 diabetes and ocular diseases. Reports from clinical trials suggest that canakinumab is well-tolerated in most patients, and no serious adverse effects have been reported. The drug provides significant advantages over existing competitive therapies, including bimonthly administration and approved use in children. (+info)A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases. (5/51)
(+info)The inflammasome, an innate immunity guardian, participates in skin urticarial reactions and contact hypersensitivity. (6/51)
(+info)Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals. (7/51)
(+info)Inflammasome and IL-1beta-mediated disorders. (8/51)
(+info)There are three main types of CAPS:
1. Familial Mediterranean Fever (FMF): This is the most common type of CAPS and affects individuals of Mediterranean or Middle Eastern descent. It is characterized by recurrent episodes of fever, abdominal pain, and rash, typically beginning in childhood.
2. Hyperimmunoglobulinemia D (HIDD): This type of CAPS is rare and affects individuals of various ethnic backgrounds. It is characterized by high levels of antibodies in the blood and recurrent infections.
3. Chronic Periodic Syndrome (CPS): This is a milder form of CAPS that affects individuals of various ethnic backgrounds. It is characterized by recurrent episodes of fever, headache, and fatigue.
CAPS are caused by mutations in the CRYOPRYN gene, which disrupts the normal function of cryopyrin, a protein involved in the immune system. The mutations lead to an overactive immune response, which causes inflammation and the symptoms of the disease.
There is no cure for CAPS, but various treatments can help manage the symptoms. These may include medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) and colchicine, as well as lifestyle modifications such as avoiding triggers and maintaining a healthy diet. In some cases, surgery may be necessary to remove affected tissue or correct anatomical abnormalities.
Early diagnosis of CAPS is important to prevent complications and improve quality of life. Diagnosis is based on a combination of clinical findings, laboratory tests, and genetic analysis. Treatment is tailored to the specific type of CAPS and the individual needs of the patient.
Overall, CAPS is a complex and multifactorial disease that affects individuals of various ethnic backgrounds. While there is no cure, early diagnosis and appropriate management can help manage symptoms and improve quality of life for those affected.
The main symptoms of FMF include:
1. Recurrent fever, usually during childhood and adolescence, which can range from 38°C to 40°C (100°F to 104°F).
2. Serositis, which can involve the heart (endocarditis), lungs (pleuritis), and/or peritoneum (peritonitis).
3. Painful joints, particularly in the hands, knees, and ankles.
4. Abdominal pain, diarrhea, and vomiting.
5. Rash, which may be present during fever episodes.
6. Enlarged spleen and liver.
7. Elevated levels of inflammatory markers in the blood, such as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP).
8. Skin rashes or lesions, which may be present during fever episodes.
9. Kidney problems, such as kidney stones or chronic kidney disease.
10. Eye problems, such as uveitis or retinal vasculitis.
There is no cure for FMF, but the symptoms can be managed with medications and other therapies. Treatment typically involves colchicine, a drug that reduces inflammation and prevents flares. Other medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids, may also be used to manage symptoms. In some cases, surgery may be necessary to remove the affected organ or to repair damaged tissue.
It is important for individuals with FMF to work closely with their healthcare provider to develop a treatment plan that is tailored to their specific needs and symptoms. With proper management, many people with FMF are able to lead active and fulfilling lives. However, it is important to note that FMF can be a chronic condition, and ongoing management is typically necessary to control symptoms and prevent complications.
The main features of HAIDs include:
1. Recurrent episodes of inflammation: Patients with HAIDs experience recurrent episodes of fever, pain, and swelling in various parts of the body, such as the joints, skin, and gastrointestinal tract. These episodes can last for days or weeks and can significantly impact quality of life.
2. Autoantibody production: HAIDs are characterized by the production of autoantibodies, which are antibodies that attack the body's own tissues. These autoantibodies can cause inflammation and damage to various organs and tissues in the body.
3. Genetic mutations: HAIDs are caused by genetic mutations that affect the function of the immune system. These mutations can be inherited from one or both parents and can vary in severity and expression.
4. Multi-system involvement: HAIDs can affect multiple systems in the body, such as the joints, skin, gastrointestinal tract, and nervous system. This can result in a range of symptoms, including pain, fatigue, and cognitive impairment.
5. High morbidity and mortality: HAIDs can have a significant impact on quality of life and survival. These conditions are often associated with high morbidity and mortality rates, particularly if left untreated or inadequately treated.
Examples of HAIDs include:
1. Familial Mediterranean Fever (FMF): FMF is an inherited disorder that affects individuals of Mediterranean descent. It is characterized by recurrent episodes of fever, pain, and inflammation in the joints, skin, and gastrointestinal tract.
2. Cryopyrin-Associated Periodic Syndromes (CAPS): CAPS are a group of rare genetic disorders that affect the immune system. They are characterized by recurrent episodes of fever, pain, and inflammation in various parts of the body.
3. Hyper-IgE syndrome: Hyper-IgE syndrome is a rare genetic disorder that affects the immune system. It is characterized by high levels of IgE antibodies in the blood and recurrent infections, particularly with Staphylococcus aureus.
4. Chronic mucocutaneous candidiasis: Chronic mucocutaneous candidiasis is a rare genetic disorder that affects the immune system. It is characterized by recurrent candidal infections of the skin, nails, and mucous membranes.
5. X-linked agammaglobulinemia: X-linked agammaglobulinemia is a rare genetic disorder that affects the immune system. It is characterized by a lack of antibody production and recurrent infections, particularly with encapsulated bacteria.
6. Common variable immunodeficiency: Common variable immunodeficiency (CVID) is a rare genetic disorder that affects the immune system. It is characterized by low levels of antibodies and recurrent infections.
7. Wiskott-Aldrich syndrome: Wiskott-Aldrich syndrome is a rare genetic disorder that affects the immune system. It is characterized by a variety of symptoms, including eczema, allergies, and an increased risk of infections.
8. X-linked hyper-IgM syndrome: X-linked hyper-IgM syndrome is a rare genetic disorder that affects the immune system. It is characterized by high levels of IgM antibodies in the blood and recurrent infections.
9. Chronic granulomatous disease: Chronic granulomatous disease (CGD) is a rare genetic disorder that affects the immune system. It is characterized by the failure of white blood cells to produce oxidizing chemicals, leading to recurrent infections and inflammation.
10. Chediak-Higashi syndrome: Chediak-Higashi syndrome is a rare genetic disorder that affects the immune system. It is characterized by a weakened immune system, low levels of white blood cells, and an increased risk of infections.
These are just a few examples of primary immunodeficiency disorders. There are many other types of these disorders, each with its own set of symptoms and characteristics. If you suspect that you or your child may have a primary immunodeficiency disorder, it is important to speak with a healthcare professional for proper diagnosis and treatment.
Examples of syndromes include:
1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.
Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.
The symptoms of Schnitzler syndrome can vary in severity and may include:
* Chronic ulcers on the skin, particularly on the hands and feet
* Thickened, hardened skin that is resistant to injury
* Loss of sensation in the affected areas
* Joint pain and swelling
* Eye inflammation (uveitis)
* Inflammation of other organs such as the lungs, liver, or kidneys
Schnitzler syndrome is rare and affects approximately one in a million people worldwide. The exact cause of the disorder is not known, but it is believed to be related to an abnormal immune response to collagen. Treatment options for Schnitzler syndrome are limited and may include medications to suppress the immune system, antibiotics to treat infections, and physical therapy to maintain joint mobility.
Schnitzler syndrome is named after Dr. Carl Schnitzler, an Austrian dermatologist who first described the condition in 1970. It is also known as "acute ulcerative necrotic marginal keratoderma" (AUNMK) or "collagenosis with ulceration and inflammation."
Mevalonate kinase deficiency can have a wide range of symptoms, including:
* Developmental delays and intellectual disability
* Seizures
* Vision loss or blindness
* Hearing loss
* Muscle weakness and wasting
* Joint deformities
* Skin rashes and lesions
The most common form of mevalonate kinase deficiency is called "classic" or "type A," which is characterized by seizures, developmental delays, and intellectual disability. Other forms of the condition may have more limited symptoms or different patterns of brain involvement.
Mevalonate kinase deficiency is caused by mutations in the MVK gene, which are usually inherited from one's parents. The condition is very rare, and it is estimated to affect only about 1 in 1 million people worldwide.
There is currently no cure for mevalonate kinase deficiency, but various treatments can help manage the symptoms. These may include anticonvulsant medications to control seizures, physical therapy to improve muscle strength and coordination, and speech and language therapy to address communication difficulties. In some cases, bone marrow transplantation may be considered as a potential treatment option.
Early diagnosis of mevalonate kinase deficiency is important, as it can help healthcare providers develop an appropriate treatment plan and provide support and resources for individuals with the condition and their families.
Treatment options for mixed hearing loss depend on the underlying cause and may include hearing aids, cochlear implants, medication, or surgery. The goal of treatment is to improve communication and minimize the impact of hearing loss on daily life.
There are several causes of hypergammaglobulinemia, including:
1. Chronic infections: Prolonged infections can cause an increase in the production of immunoglobulins to fight off the infection.
2. Autoimmune disorders: Conditions such as rheumatoid arthritis, lupus, and multiple sclerosis can cause the immune system to produce excessive amounts of antibodies.
3. Cancer: Some types of cancer, such as Hodgkin's disease and non-Hodgkin's lymphoma, can cause an increase in immunoglobulin production.
4. Genetic disorders: Certain genetic conditions, such as X-linked agammaglobulinemia, can lead to a deficiency or excess of immunoglobulins.
5. Medications: Certain medications, such as corticosteroids and chemotherapy drugs, can suppress the immune system and reduce the production of immunoglobulins.
Symptoms of hypergammaglobulinemia can include:
1. Infections: Recurring infections are a common symptom of hypergammaglobulinemia, as the excessive amount of antibodies can make it difficult for the body to fight off infections effectively.
2. Fatigue: Chronic infections and inflammation can cause fatigue and weakness.
3. Weight loss: Recurring infections and chronic inflammation can lead to weight loss and malnutrition.
4. Swollen lymph nodes: Enlarged lymph nodes are a common symptom of hypergammaglobulinemia, as the body tries to fight off infections.
5. Fever: Recurring fevers can be a symptom of hypergammaglobulinemia, as the body tries to fight off infections.
6. Night sweats: Excessive sweating at night can be a symptom of hypergammaglobulinemia.
7. Skin rashes: Certain types of skin rashes can be a symptom of hypergammaglobulinemia, such as a rash caused by allergic reactions to medications or infections.
8. Joint pain: Pain and stiffness in the joints can be a symptom of hypergammaglobulinemia, particularly if the excessive amount of antibodies is causing inflammation in the joints.
9. Headaches: Chronic headaches can be a symptom of hypergammaglobulinemia, particularly if the excessive amount of antibodies is causing inflammation in the brain or other parts of the body.
10. Swollen liver and spleen: Enlarged liver and spleen can be a symptom of hypergammaglobulinemia, as the body tries to filter out excess antibodies and fight off infections.
It is important to note that these symptoms can also be caused by other medical conditions, so it is essential to consult a healthcare professional for proper diagnosis and treatment. A healthcare professional may perform blood tests and other diagnostic procedures to determine the underlying cause of the symptoms and develop an appropriate treatment plan. Treatment for hypergammaglobulinemia typically involves addressing the underlying cause of the condition, such as infections, allergies, or autoimmune disorders, and may include medications to reduce inflammation and suppress the immune system.
There are several types of amyloidosis, each with different causes and symptoms. The most common types include:
1. Primary amyloidosis: This type is caused by the production of abnormal proteins in the bone marrow. It mainly affects older adults and can lead to symptoms such as fatigue, weight loss, and numbness or tingling in the hands and feet.
2. Secondary amyloidosis: This type is caused by other conditions, such as rheumatoid arthritis, tuberculosis, or inflammatory bowel disease. It can also be caused by long-term use of certain medications, such as antibiotics or chemotherapy.
3. Familial amyloid polyneuropathy: This type is inherited and affects the nerves in the body, leading to symptoms such as muscle weakness, numbness, and pain.
4. Localized amyloidosis: This type affects a specific area of the body, such as the tongue or the skin.
The symptoms of amyloidosis can vary depending on the organs affected and the severity of the condition. Some common symptoms include:
1. Fatigue
2. Weakness
3. Pain
4. Numbness or tingling in the hands and feet
5. Swelling in the legs, ankles, and feet
6. Difficulty with speech or swallowing
7. Seizures
8. Heart problems
9. Kidney failure
10. Liver failure
The diagnosis of amyloidosis is based on a combination of physical examination, medical history, laboratory tests, and imaging studies. Laboratory tests may include blood tests to measure the levels of certain proteins in the body, as well as biopsies to examine tissue samples under a microscope. Imaging studies, such as X-rays, CT scans, and MRI scans, may be used to evaluate the organs affected by the condition.
There is no cure for amyloidosis, but treatment can help manage the symptoms and slow the progression of the disease. Treatment options may include:
1. Medications to control symptoms such as pain, swelling, and heart problems
2. Chemotherapy to reduce the production of abnormal proteins
3. Autologous stem cell transplantation to replace damaged cells with healthy ones
4. Dialysis to remove excess fluids and waste products from the body
5. Nutritional support to ensure adequate nutrition and hydration
6. Physical therapy to maintain muscle strength and mobility
7. Supportive care to manage pain, improve quality of life, and reduce stress on the family.
In conclusion, amyloidosis is a complex and rare group of diseases that can affect multiple organs and systems in the body. Early diagnosis and treatment are essential to managing the symptoms and slowing the progression of the disease. It is important for patients with suspected amyloidosis to seek medical attention from a specialist, such as a hematologist or nephrologist, for proper evaluation and treatment.
Gouty arthritis can cause sudden and severe pain, swelling, redness, and warmth in the affected joint, which can last for several days before subsiding. Attacks can be triggered by factors such as alcohol consumption, certain foods (like meat or seafood), stress, and certain medications.
Gouty arthritis is caused by a combination of genetic and lifestyle factors, including a diet high in purine-rich foods, obesity, alcoholism, and certain medical conditions such as hypertension or kidney disease. It can be difficult to diagnose gouty arthritis because the symptoms are similar to other forms of arthritis, but blood tests can help confirm the presence of uric acid crystals in the joint fluid.
Treatment for gouty arthritis typically involves medications to reduce inflammation and relieve pain, as well as lifestyle changes such as limiting alcohol intake and following a low-purine diet. In some cases, corticosteroids or other medications may be prescribed to help reduce inflammation and prevent future attacks.
Previous Post Definition of 'Arthritis' in the medical field.
1. Osteoarthritis: A degenerative condition that causes the breakdown of cartilage in the joints, leading to pain, stiffness, and loss of mobility.
2. Rheumatoid arthritis: An autoimmune disease that causes inflammation in the joints, leading to pain, swelling, and deformity.
3. Gout: A condition caused by the buildup of uric acid in the joints, leading to sudden and severe attacks of pain, inflammation, and swelling.
4. Bursitis: Inflammation of the bursae, small fluid-filled sacs that cushion the joints and reduce friction between tendons and bones.
5. Tendinitis: Inflammation of the tendons, which connect muscles to bones.
6. Synovitis: Inflammation of the synovial membrane, a thin lining that covers the joints and lubricates them with fluid.
7. Periarthritis: Inflammation of the tissues around the joints, such as the synovial membrane, tendons, and ligaments.
8. Spondyloarthritis: A group of conditions that affect the spine and sacroiliac joints, leading to inflammation and pain in these areas.
9. Juvenile idiopathic arthritis: A condition that affects children and causes inflammation and pain in the joints.
10. Systemic lupus erythematosus: An autoimmune disease that can affect many parts of the body, including the joints.
These are just a few examples of the many types of joint diseases that exist. Each type has its own unique symptoms and causes, and they can be caused by a variety of factors such as genetics, injury, infection, or age-related wear and tear. Treatment options for joint diseases can range from medication and physical therapy to surgery, depending on the severity of the condition and its underlying cause.
There are several key features of inflammation:
1. Increased blood flow: Blood vessels in the affected area dilate, allowing more blood to flow into the tissue and bringing with it immune cells, nutrients, and other signaling molecules.
2. Leukocyte migration: White blood cells, such as neutrophils and monocytes, migrate towards the site of inflammation in response to chemical signals.
3. Release of mediators: Inflammatory mediators, such as cytokines and chemokines, are released by immune cells and other cells in the affected tissue. These molecules help to coordinate the immune response and attract more immune cells to the site of inflammation.
4. Activation of immune cells: Immune cells, such as macrophages and T cells, become activated and start to phagocytose (engulf) pathogens or damaged tissue.
5. Increased heat production: Inflammation can cause an increase in metabolic activity in the affected tissue, leading to increased heat production.
6. Redness and swelling: Increased blood flow and leakiness of blood vessels can cause redness and swelling in the affected area.
7. Pain: Inflammation can cause pain through the activation of nociceptors (pain-sensing neurons) and the release of pro-inflammatory mediators.
Inflammation can be acute or chronic. Acute inflammation is a short-term response to injury or infection, which helps to resolve the issue quickly. Chronic inflammation is a long-term response that can cause ongoing damage and diseases such as arthritis, asthma, and cancer.
There are several types of inflammation, including:
1. Acute inflammation: A short-term response to injury or infection.
2. Chronic inflammation: A long-term response that can cause ongoing damage and diseases.
3. Autoimmune inflammation: An inappropriate immune response against the body's own tissues.
4. Allergic inflammation: An immune response to a harmless substance, such as pollen or dust mites.
5. Parasitic inflammation: An immune response to parasites, such as worms or fungi.
6. Bacterial inflammation: An immune response to bacteria.
7. Viral inflammation: An immune response to viruses.
8. Fungal inflammation: An immune response to fungi.
There are several ways to reduce inflammation, including:
1. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and disease-modifying anti-rheumatic drugs (DMARDs).
2. Lifestyle changes, such as a healthy diet, regular exercise, stress management, and getting enough sleep.
3. Alternative therapies, such as acupuncture, herbal supplements, and mind-body practices.
4. Addressing underlying conditions, such as hormonal imbalances, gut health issues, and chronic infections.
5. Using anti-inflammatory compounds found in certain foods, such as omega-3 fatty acids, turmeric, and ginger.
It's important to note that chronic inflammation can lead to a range of health problems, including:
1. Arthritis
2. Diabetes
3. Heart disease
4. Cancer
5. Alzheimer's disease
6. Parkinson's disease
7. Autoimmune disorders, such as lupus and rheumatoid arthritis.
Therefore, it's important to manage inflammation effectively to prevent these complications and improve overall health and well-being.
There are several types of dermatitis, including:
1. Atopic dermatitis: a chronic condition characterized by dry, itchy skin and a tendency to develop allergies.
2. Contact dermatitis: a localized reaction to an allergen or irritant that comes into contact with the skin.
3. Seborrheic dermatitis: a condition characterized by redness, itching, and flaking skin on the scalp, face, or body.
4. Psoriasis: a chronic condition characterized by thick, scaly patches on the skin.
5. Cutaneous lupus erythematosus: a chronic autoimmune disorder that can cause skin rashes and lesions.
6. Dermatitis herpetiformis: a rare condition characterized by itchy blisters or rashes on the skin.
Dermatitis can be diagnosed through a physical examination, medical history, and sometimes laboratory tests such as patch testing or biopsy. Treatment options for dermatitis depend on the cause and severity of the condition, but may include topical creams or ointments, oral medications, phototherapy, or lifestyle changes such as avoiding allergens or irritants.
Down syndrome can be diagnosed before birth through prenatal testing, such as chorionic villus sampling or amniocentesis, or after birth through a blood test. The symptoms of Down syndrome can vary from person to person, but common physical features include:
* A flat face with a short neck and small ears
* A short stature
* A wide, short hands with short fingers
* A small head
* Almond-shaped eyes that are slanted upward
* A single crease in the palm of the hand
People with Down syndrome may also have cognitive delays and intellectual disability, as well as increased risk of certain medical conditions such as heart defects, gastrointestinal problems, and hearing and vision loss.
There is no cure for Down syndrome, but early intervention and proper medical care can greatly improve the quality of life for individuals with the condition. Treatment may include speech and language therapy, occupational therapy, physical therapy, and special education programs. With appropriate support and resources, people with Down syndrome can lead fulfilling and productive lives.
1. Abdominal obesity (excess fat around the waistline)
2. High blood pressure (hypertension)
3. Elevated fasting glucose (high blood sugar)
4. High serum triglycerides (elevated levels of triglycerides in the blood)
5. Low HDL cholesterol (low levels of "good" cholesterol)
Having three or more of these conditions is considered a diagnosis of metabolic syndrome X. It is estimated that approximately 34% of adults in the United States have this syndrome, and it is more common in women than men. Risk factors for developing metabolic syndrome include obesity, lack of physical activity, poor diet, and a family history of type 2 diabetes or CVD.
The term "metabolic syndrome" was first introduced in the medical literature in the late 1980s, and since then, it has been the subject of extensive research. The exact causes of metabolic syndrome are not yet fully understood, but it is believed to be related to insulin resistance, inflammation, and changes in body fat distribution.
Treatment for metabolic syndrome typically involves lifestyle modifications such as weight loss, regular physical activity, and a healthy diet. Medications such as blood pressure-lowering drugs, cholesterol-lowering drugs, and anti-diabetic medications may also be prescribed if necessary. It is important to note that not everyone with metabolic syndrome will develop type 2 diabetes or CVD, but the risk is increased. Therefore, early detection and treatment are crucial in preventing these complications.
Sjögren's syndrome can affect people of all ages, but it most commonly occurs in women between the ages of 40 and 60. The exact cause of the disorder is not known, but it is believed to be an autoimmune response, meaning that the immune system mistakenly attacks the glands as if they were foreign substances.
Symptoms of Sjögren's syndrome can vary in severity and may include:
* Dry mouth (xerostomia)
* Dry eyes (dry eye syndrome)
* Fatigue
* Joint pain
* Swollen lymph nodes
* Rash
* Sores on the skin
* Numbness or tingling in the hands and feet
* Sexual dysfunction
There is no cure for Sjögren's syndrome, but various treatments can help manage the symptoms. These may include:
* Medications to stimulate saliva production
* Eye drops to moisturize the eyes
* Mouthwashes to stimulate saliva production
* Pain relief medication for joint pain
* Anti-inflammatory medication to reduce swelling
* Immunosuppressive medication to suppress the immune system
* Hormone replacement therapy (HRT) to treat hormonal imbalances.
Sjögren's syndrome can also increase the risk of developing other autoimmune disorders, such as rheumatoid arthritis or lupus. It is important for people with Sjögren's syndrome to work closely with their healthcare provider to manage their symptoms and monitor their condition over time.
Turner syndrome occurs in approximately 1 in every 2,500 to 3,000 live female births and is more common in girls born to older mothers. The symptoms of Turner syndrome can vary widely and may include:
* Short stature and delayed growth and development
* Infertility or lack of menstruation (amenorrhea)
* Heart defects, such as a narrowed aorta or a hole in the heart
* Eye problems, such as cataracts, glaucoma, or crossed eyes
* Hearing loss or deafness
* Bone and joint problems, such as scoliosis or clubfoot
* Cognitive impairments, including learning disabilities and memory problems
* Delayed speech and language development
* Poor immune function, leading to recurrent infections
Turner syndrome is usually diagnosed at birth or during childhood, based on physical characteristics such as short stature, low muscle tone, or heart defects. Chromosomal analysis can also confirm the diagnosis.
There is no cure for Turner syndrome, but treatment can help manage the symptoms and improve quality of life. Hormone replacement therapy may be used to stimulate growth and development in children, while adults with the condition may require ongoing hormone therapy to maintain bone density and prevent osteoporosis. Surgery may be necessary to correct heart defects or other physical abnormalities. Speech and language therapy can help improve communication skills, and cognitive training may be beneficial for learning disabilities.
The long-term outlook for individuals with Turner syndrome varies depending on the severity of the condition and the presence of any additional health problems. With proper medical care and support, many women with Turner syndrome can lead fulfilling lives, but they may face unique challenges related to fertility, heart health, and other issues.
Cryopyrin-associated periodic syndrome
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CAPS18
- Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. (nih.gov)
- CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS) (see these terms). (nih.gov)
- Cryopyrin-associated periodic syndromes (CAPS) are a group of conditions that have overlapping signs and symptoms and the same genetic cause. (nih.gov)
- Generally, CAPS are characterized by periodic episodes of skin rash, fever, and joint pain. (nih.gov)
- Researchers believe that NLRP3 gene variants that cause CAPS result in an overactive cryopyrin protein, which leads to inappropriate inflammatory responses. (nih.gov)
- Cryopyrin-associated periodic syndromes (CAPS) are rare monogenic autoinflammatory diseases, comprising a spectrum of phenotypes of varying severity. (nih.gov)
- ARCALYST ® (rilonacept) is an interleukin-1 blocker indicated for the treatment of Cryopyrin-Associated Periodic Syndromes (CAPS), including Familial Cold Autoinflammatory Syndrome (FCAS), and Muckle-Wells Syndrome (MWS) in adults and pediatric patients 12 years and older. (nih.gov)
- Rilonacept is a recombinant interleukin-1 (IL-1) antagonist which is used in the therapy of cryopyrin-associated periodic syndromes (CAPS) and other autoinflammatory conditions. (nih.gov)
- Rilonacept in the management of cryopyrin-associated periodic syndromes (CAPS). (nih.gov)
- KINERET is the first and only FDA-approved treatment for children and adults with neonatal-onset multisystem inflammatory disease (NOMID)-a form of cryopyrin-associated periodic syndromes (CAPS). (kineretrx.com)
- Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. (bvsalud.org)
- 2. To follow patients with autoinflammatory Diseases that are genetically defined including Neonatal-Onset Multisystem Inflammatory Disease (NOMID), the most severe clinical phenotype of Cryopyrin-Associated Periodic Syndromes (CAPS), Deficiency of IL-1 Receptor Antagonist (DIRA), Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperatures (CANDLE), and STING-Associated Vasculopathy with onset in Infancy (SAVI), and those with genetically undefined autoinflammatory disorders to determine long-term disease outcomes. (nih.gov)
- Blood was obtained from healthy controls and from patients with Familial Mediterranean Fever (FMF), Pyogenic Arthritis, Pyoderma gangrenosum, and Acne (PAPA) syndrome, Cryopyrin Associated Periodic Syndromes (CAPS), Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation (APLAID), and mutation negative AD. (nih.gov)
- Cryopyrin-Associated Periodic Fever Syndrome (CAPS) is an autosomal dominant genetic inflammatory disorder caused by excessive production by the immune system of an inflammatory hormone (cytokine) called interleukin-1. (gosh.ae)
- Before treatment, 4% of the patients had a CAPS (Cryopyrin-Associated Periodic Fever Syndrome) DAS score of 3 or below. (gosh.ae)
- Cryopyrin-associated periodic syndrome (CAPS), clinically characterized by neutrophil-rich urticarial rash, is associated with missense mutations in NLRP3 . (biomedcentral.com)
- Capsule?CAPD: Continuous ambulatory peritoneal dialysis?Caps: Capsules?CAPS: Cryopyrin-Associated Periodic Syndromes disorders?CAPTIA Syph G: ?CAPTIA Syph M: ?CAST: Cardiac arrhythmia suppression trials?CAT: Computerized axial tomography?Cataplasm. (kuwaitpharmacy.com)
- This is the origin of the "Familial" part of the syndrome name, however a spontaneous mutation of the NLRP3 ( CIAS1 ) gene can occur in families with no other family members with CAPS symptoms. (nomidalliance.com)
Neonatal-Onset M1
- It is approved by the Food and Drug Administration (FDA) to treat rheumatoid arthritis and cryopyrin-associated periodic syndromes, specifically neonatal-onset multisystem inflammatory disease. (nih.gov)
Muckle-Wells Sy1
- The group includes three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disorder (NOMID). (nih.gov)
Rilonacept1
- Long-term efficacy and safety profile of rilonacept in the treatment of cryopryin-associated periodic syndromes: results of a 72-week open-label extension study. (nih.gov)
FCAS4
- FCAS is the acronym for: Familial Cold Auto inflammatory Syndrome, also known as Familial Cold Urticaria (FCU). (nomidalliance.com)
- Most people with FCAS are able to lead a normal life, with an average life expectancy, and often have married and had children (which is how some affected families share a the same type of NLRP3 genetic mutation for this syndrome). (nomidalliance.com)
- Since FCAS does not commonly cause major permanent damage to the body, as in the other cryopyrin-related syndromes, many people have been able to marry, have children, and have passed on the FCAS gene mutation throughout their family for generations. (nomidalliance.com)
- This is common to all the cryopyrin-related syndromes, however FCAS symptoms are often induced by cold exposure, whereas the MWS and NOMID generally have flare ups of inflammation at random, and often with great frequency regardless of the climate. (nomidalliance.com)
Autosomal dominant1
- This syndrome is also characterized by autosomal dominant inherited genetic mutation on the NLRP3 ( CIAS1 ) gene that codes the protein cryopyrin. (nomidalliance.com)
NLRP34
- The NLRP3 gene provides instructions for making a protein called cryopyrin. (nih.gov)
- METHODS: We compared mice harboring inducible alleles encoding the cryopyrin-associated periodic syndrome activating mutations Nlrp3A350V and Nlrp3L351P inserted into the endogenous mouse Nlrp3 locus. (nih.gov)
- and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations. (nih.gov)
- Samson JM, Ravindran Menon D, Vaddi PK, Kalani Williams N, Domenico J, Zhai Z, Backos DS, Fujita M. Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes. (ucdenver.edu)
Disorders1
- Putative PRR dysfunction is associated with numerous immune disorders that affect the skin, such as systemic lupus erythematosus, cryopyrin-associated periodic syndrome, and primary inflammatory skin diseases including psoriasis and atopic dermatitis. (ru.nl)
Cold autoinflammatory syndrome type1
- Familial cold autoinflammatory syndrome type 2 is a condition that causes episodes of fever, skin rash, and joint pain. (nih.gov)
Fever1
- Individuals with MWS develop the typical periodic episodes of skin rash, fever, and joint pain after cold exposure, although episodes may occur spontaneously or all the time. (nih.gov)
Genetics2
- This means that you can inherit the genetics to cause this syndrome even if only one parent has it). (nomidalliance.com)
- A research team from the University of Helsinki, Helsinki University Hospital and Folkhälsan Institute of Genetics in Helsinki, Finland, have identified a new genetic mutation that alters the function of cryopyrin and leads to a life-long periodic inflammation of the cornea, the transparent window of the human eye. (blogspot.com)
Symptoms1
- When Do Symptoms of Cryopyrin-associated periodic syndrome Begin? (nih.gov)
Treatment1
- Ear drops?AutoPap: Computer-assisted cytology interpretation system?AV: Aortic valve?AV: Atrioventricular?A-V: Arteriovenous?AVERT: Atorvastatin Versus Revascularization treatment?AVID: ?AVM: Arteriovenous Malformation?AVNRT: AV nodal reentry tachycardia?AVP: Arginine vasopressin?AVR: Aortic valve replacement?AVR: Augmented V lead, right arm (ECG)?AVRT: ?AVS: Arteriovenous shunt?AWS: Alcohol withdrawal syndrome?AXR: Abdominal X ray?AZF: Azoospermia factor genes?AZT: Azidothymidine (zidovudine)?B & O: Belladonna and opium?B Bx. (kuwaitpharmacy.com)
Severe1
- 4 It is used off-label to treat severe chimeric antigen receptor T cell-mediated cytokine release syndrome and macrophage activation syndrome (MAS)/secondary hemophagocytic lymphohistiocytosis. (nih.gov)
Rare1
- This is an extremely rare syndrome that is present in certain families primarily of North American and European decent, and is estimated to occur at a rate of 1:1,000,000 in these continents. (nomidalliance.com)
Complex1
- Cryopyrin is involved in the assembly of a molecular complex called an inflammasome, which helps trigger the inflammatory process. (nih.gov)
Neonatal-onset m1
- 2. To follow patients with autoinflammatory Diseases that are genetically defined including Neonatal-Onset Multisystem Inflammatory Disease (NOMID), the most severe clinical phenotype of Cryopyrin-Associated Periodic Syndromes (CAPS), Deficiency of IL-1 Receptor Antagonist (DIRA), Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperatures (CANDLE), and STING-Associated Vasculopathy with onset in Infancy (SAVI), and those with genetically undefined autoinflammatory disorders to determine long-term disease outcomes. (nih.gov)
CINCA1
- and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations. (bvsalud.org)
Mutations1
- METHODS: We compared mice harboring inducible alleles encoding the cryopyrin-associated periodic syndrome activating mutations Nlrp3A350V and Nlrp3L351P inserted into the endogenous mouse Nlrp3 locus. (nih.gov)
Cells1
- 9. Induction of Myeloid-Derived Suppressor Cells in Cryopyrin-Associated Periodic Syndromes. (nih.gov)
Gene1
- The NLRP3 gene provides instructions for making a protein called cryopyrin. (medlineplus.gov)
Family1
- Cryopyrin is a member of a family of proteins called intracellular "NOD-like" receptor (NLR) proteins. (medlineplus.gov)