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Schnitzler's Syndrome
Schnitzler syndrome or Schnitzler's syndrome is a rare disease characterised by onset around middle age of chronic hives (urticaria) and periodic fever, bone and joint pain (sometimes with joint inflammation), weight loss, malaise, fatigue, swollen lymph glands and enlarged spleen and liver. Schnitzler syndrome is considered an autoinflammatory disorder and is generally treated with anakinra, which inhibits interleukin 1. This treatment controls the condition but does not cure it. Around 15% of people develop complications, but the condition generally does not shorten life. Classification Schnitzler syndrome is a late-onset autoinflammatory disorder. Signs and symptoms The typical onset is at around 55 years old, and the symptoms are recurrent hives, mostly on the torso and limbs, often with recurring fever, joint pain, bone pain, muscle pain, headache, fatigue, and loss of weight. Cause As of 2017 the cause of the disease was not understood. A 2024 review by Braud and Lip ...
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Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest. While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken to ...
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Immunoglobulin Light Chain
] The immunoglobulin light chain is the small Peptide, polypeptide subunit of an antibody (immunoglobulin). A typical antibody is composed of two immunoglobulin (Ig) heavy chains and two Ig light chains. In humans There are two types of light chain in humans: * kappa (κ) chain, encoded by the immunoglobulin kappa locus (IGK@) on chromosome 2 (locus: 2p11.2) * lambda (λ) chain, encoded by the immunoglobulin lambda locus (IGL@) on chromosome 22 (locus: 22q11.2) Antibodies are produced by B lymphocytes, each expressing only one class of light chain. Once set, light chain class remains fixed for the life of the B lymphocyte. In a healthy individual, the total kappa-to-lambda ratio is roughly 2:1 in serum (measuring intact whole antibodies) or 1:1.5 if measuring free light chains, with a highly divergent ratio indicative of neoplasm. The free light chain ratio ranges from 0.26 to 1.65. Both the kappa and the lambda chains can increase proportionately, maintaining a normal ...
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Differential Diagnosis
In healthcare, a differential diagnosis (DDx) is a method of analysis that distinguishes a particular disease or condition from others that present with similar clinical features. Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient, or, at least, to consider any imminently life-threatening conditions. Often, each possible disease is called a differential diagnosis (e.g., acute bronchitis could be a differential diagnosis in the evaluation of a cough, even if the final diagnosis is common cold). More generally, a differential diagnostic procedure is a systematic diagnostic method used to identify the presence of a disease entity where multiple alternatives are possible. This method may employ algorithms, akin to the process of elimination, or at least a process of obtaining information that decreases the "probabilities" of candidate conditions to negligible levels, by using evidence such as symptoms, patient history, and medi ...
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Skin Biopsy
Skin biopsy is a biopsy technique in which a skin lesion is removed to be sent to a pathologist to render a microscopic diagnosis. It is usually done under local anesthetic in a physician's office, and results are often available in 4 to 10 days. It is commonly performed by dermatologists. Skin biopsies are also done by family physicians, internists, surgeons, and other specialties. However, performed incorrectly, and without appropriate clinical information, a pathologist's interpretation of a skin biopsy can be severely limited, and therefore doctors and patients may forgo traditional biopsy techniques and instead choose Mohs surgery. There are four main types of skin biopsies: shave biopsy, punch biopsy, excisional biopsy, and incisional biopsy. The choice of the different skin biopsies is dependent on the suspected diagnosis of the skin lesion. Like most biopsies, patient consent and anesthesia (usually lidocaine injected into the skin) are prerequisites. Types Shave ...
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Neutrophil
Neutrophils are a type of phagocytic white blood cell and part of innate immunity. More specifically, they form the most abundant type of granulocytes and make up 40% to 70% of all white blood cells in humans. Their functions vary in different animals. They are also known as neutrocytes, heterophils or polymorphonuclear leukocytes. They are formed from stem cells in the bone marrow and differentiated into subpopulations of neutrophil-killers and neutrophil-cagers. They are short-lived (between 5 and 135 hours, see ) and highly mobile, as they can enter parts of tissue where other cells/molecules cannot. Neutrophils may be subdivided into segmented neutrophils and banded neutrophils (or bands). They form part of the polymorphonuclear cells family (PMNs) together with basophils and eosinophils. The name ''neutrophil'' derives from staining characteristics on hematoxylin and eosin ( H&E) histological or cytological preparations. Whereas basophilic white blood cells ...
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Leukocytosis
Leukocytosis is a condition in which the white cell (leukocyte) count is above the normal range in the blood. It is frequently a sign of an inflammatory response, most commonly the result of infection, but may also occur following certain parasitic infections or bone tumors as well as leukemia. It may also occur after strenuous exercise, convulsions such as epilepsy, emotional stress, pregnancy and labor, anesthesia, as a side effect of medication (e.g., lithium), and epinephrine administration. There are five principal types of leukocytosis: neutrophilia (the most common form), lymphocytosis, monocytosis, eosinophilia, and basophilia. This increase in leukocyte (primarily neutrophils) is usually accompanied by a "left upper shift" in the ratio of immature to mature neutrophils and macrophages. The proportion of immature leukocytes increases due to proliferation and inhibition of granulocyte and monocyte precursors in the bone marrow which is stimulated by several products o ...
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Biopsy
A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, an interventional radiologist, or an interventional cardiology, interventional cardiologist. The process involves the extraction of sampling (medicine), sample Cell (biology), cells or Biological tissue, tissues for examination to determine the presence or extent of a disease. The tissue is then Histopathology, fixed, dehydrated, embedded, sectioned, stained and mounted before it is generally examined under a microscope by a pathologist; it may also be analyzed chemically. When an entire lump or suspicious area is removed, the procedure is called an excisional biopsy. An incisional biopsy or core biopsy samples a portion of the abnormal tissue without attempting to remove the entire lesion or tumor. When a sample of tissue or fluid is removed with a needle in such a way that cells are removed without preserving the histological architecture of the tissue cells, the procedure is called a needle as ...
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Osteosclerosis
Osteosclerosis is a disorder characterized by abnormal hardening of bone and an elevation in bone density. It may predominantly affect the medullary portion and/or cortex of bone. Plain radiographs are a valuable tool for detecting and classifying osteosclerotic disorders. It can manifest in localized or generalized osteosclerosis. Localized osteosclerosis can be caused by Legg–Calvé–Perthes disease, sickle-cell disease and osteoarthritis among others. Osteosclerosis can be classified in accordance with the causative factor into acquired and hereditary. Types Acquired osteosclerosis * Osteogenic bone metastasis caused by carcinoma of prostate and breast * Paget's disease of bone * Myelofibrosis (primary disorder or secondary to intoxication or malignancy) * Osteosclerosing types of chronic osteomyelitis * Hypervitaminosis D * Hyperparathyroidism * Schnitzler syndrome * Mastocytosis * Skeletal fluorosis * Monoclonal IgM Kappa cryoglobulinemia * Hepatitis C. Here ...
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Radiology
Radiology ( ) is the medical specialty that uses medical imaging to diagnose diseases and guide treatment within the bodies of humans and other animals. It began with radiography (which is why its name has a root referring to radiation), but today it includes all imaging modalities. This includes technologies that use no ionizing electromagnetic radiation, such as medical ultrasound, ultrasonography and magnetic resonance imaging (MRI), as well as others that do use radiation, such as x-ray computed tomography, computed tomography (CT), fluoroscopy, and nuclear medicine including positron emission tomography (PET). Interventional radiology is the performance of usually invasiveness of surgical procedures, minimally invasive medical procedures with the guidance of imaging technologies such as those mentioned above. The modern practice of radiology involves a team of several different healthcare professionals. A radiologist, who is a medical doctor with specialized post-graduate tr ...
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Anemia Of Chronic Disease
Anemia of chronic disease (ACD) or anemia of chronic inflammation is a form of anemia seen in chronic infection, chronic immune activation, and malignancy. These conditions all produce elevation of interleukin-6, which stimulates hepcidin production and release from the liver. Hepcidin production and release shuts down ferroportin, a protein that controls export of iron from the gut and from iron storing cells (e.g. macrophages). As a consequence, circulating iron levels are reduced. Other mechanisms may also play a role, such as reduced erythropoiesis. It is also known as anemia of inflammation, or anemia of inflammatory response. Classification Anemia of chronic disease is usually mild but can be severe. It is usually normocytic, but can be microcytic. The presence of both anemia of chronic disease and dietary iron deficiency results in a more severe anemia. Pathophysiology Anemia is defined by hemoglobin (Hb) concentration * < 13.0 g/dL (130 g/L) in males * < 11.5 g/dL (11 ...
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C-reactive Protein
C-reactive protein (CRP) is an annular (ring-shaped) pentameric protein found in blood plasma, whose circulating concentrations rise in response to inflammation. It is an acute-phase protein of hepatic origin that increases following interleukin-6 secretion by macrophages and T cells. Its physiological role is to bind to lysophosphatidylcholine expressed on the surface of dead or dying cells (and some types of bacteria) in order to activate the complement system via C1q. CRP is synthesized by the liver in response to factors released by macrophages, T cells and fat cells (adipocytes). It is a member of the pentraxin family of proteins. It is not related to C-peptide (insulin) or protein C (blood coagulation). C-reactive protein was the first pattern recognition receptor (PRR) to be identified. History and etymology Discovered by William S. Tillett, Tillett and Francis in 1930, it was initially thought that CRP might be a pathogenic secretion since it was elevated in a variety ...
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Erythrocyte Sedimentation Rate
The erythrocyte sedimentation rate (ESR or sed rate) is the rate at which red blood cells in anticoagulated whole blood descend in a standardized tube over a period of one hour. It is a common hematology test, and is a non-specific measure of inflammation. To perform the test, anticoagulated blood is traditionally placed in an upright tube, known as a Westergren tube, and the distance which the red blood cells fall is measured and reported in millimetres at the end of one hour. Since the introduction of automated analyzers into the clinical laboratory, the ESR test has been automatically performed. The ESR is influenced by the aggregation of red blood cells: blood plasma proteins, mainly fibrinogen, promote the formation of red cell clusters called '' rouleaux'' or larger structures (interconnected rouleaux, irregular clusters). As according to Stokes' law the sedimentation velocity varies like the square of the object's diameter, larger aggregates settle faster. While aggrega ...
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