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TAR syndrome is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. It is associated with cardiac defects, dysmorphic features, and petechiae. It involves a 1q21 deletion with RMB8A variant on other allele.
Wernicke–Korsakoff syndrome (WKS) is the combined presence of Wernicke encephalopathy (WE) and Korsakoff syndrome. Due to the close relationship between these two disorders, people with either are usually diagnosed with WKS as a single syndrome. It mainly causes vision changes, ataxia and impaired memory.
Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition.
Normal-pressure hydrocephalus (NPH), also called malresorptive hydrocephalus, is a form of communicating hydrocephalus in which excess cerebrospinal fluid (CSF) occurs in the ventricles, and with normal or slightly elevated cerebrospinal fluid pressure. As the fluid builds up, it causes the ventricles to enlarge and the pressure inside the head to increase, compressing surrounding brain tissue and leading to neurological complications. The disease presents in a classic triad of symptoms, which are memory impairment, urinary frequency, and balance problems/gait deviations. The disease was first described by Salomón Hakim and Adams in 1965.
Whipple's triad is a collection of three signs that suggests that a patient's symptoms result from hypoglycaemia that may indicate insulinoma. The essential conditions are symptoms of hypoglycaemia, low blood plasma glucose concentration, and relief of symptoms when plasma glucose concentration is increased. It was first described by the pancreatic surgeon Allen Whipple, who aimed to establish criteria for exploratory pancreatic surgery to look for insulinoma.
Cryoglobulinemia is a medical condition in which the blood contains large amounts of pathological cold sensitive antibodies called cryoglobulins – proteins that become insoluble at reduced temperatures. This should be contrasted with cold agglutinins, which cause agglutination of red blood cells.
Lingual lipase is a member of a family of digestive enzymes called triacylglycerol lipases, EC 3.1.1.3, that use the catalytic triad of aspartate, histidine, and serine to hydrolyze medium and long-chain triglycerides into partial glycerides and free fatty acids. The enzyme, released into the mouth along with the saliva, catalyzes the first reaction in the digestion of dietary lipid, with diglycerides being the primary reaction product. However, due to the unique characteristics of lingual lipase, including a pH optimum 4.5–5.4 and its ability to catalyze reactions without bile salts, the lipolytic activity continues through to the stomach. Enzyme release is signaled by autonomic nervous system after ingestion, at which time the serous glands under the circumvallate and foliate lingual papillae on the surface of the tongue secrete lingual lipase to the grooves of the circumvallate and foliate papillae, co-localized with fat taste receptors. The hydrolysis of the dietary fats is essential for fat absorption by the small intestine, as long chain triacylglycerides cannot be absorbed, and as much as 30% of fat is hydrolyzed within 1 to 20 minutes of ingestion by lingual lipase alone.
Reactive arthritis, also known as Reiter's syndrome, is a form of inflammatory arthritis that develops in response to an infection in another part of the body (cross-reactivity). Coming into contact with bacteria and developing an infection can trigger the disease. By the time the patient presents with symptoms, often the "trigger" infection has been cured or is in remission in chronic cases, thus making determination of the initial cause difficult.
Kearns–Sayre syndrome (KSS), oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder with ragged red fibers is a mitochondrial myopathy with a typical onset before 20 years of age. KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia, a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid and eye. This results in ptosis and ophthalmoplegia respectively. KSS involves a combination of the already described CPEO as well as pigmentary retinopathy in both eyes and cardiac conduction abnormalities. Other symptoms may include cerebellar ataxia, proximal muscle weakness, deafness, diabetes mellitus, growth hormone deficiency, hypoparathyroidism, and other endocrinopathies. In both of these diseases, muscle involvement may begin unilaterally but always develops into a bilateral deficit, and the course is progressive. This discussion is limited specifically to the more severe and systemically involved variant.
Monoclonal gammopathy, also known as paraproteinemia, is the presence of excessive amounts of myeloma protein or monoclonal gamma globulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma. It is sometimes considered equivalent to plasma cell dyscrasia. The most common form of the disease is monoclonal gammopathy of undetermined significance.
Löfgren syndrome is a type of acute sarcoidosis, an inflammatory disorder characterized by swollen lymph nodes in the chest, tender red nodules on the shins, fever and arthritis. It is more common in women than men, and is more frequent in those of Scandinavian, Irish, African and Puerto Rican heritage. It was described in 1953 by Sven Halvar Löfgren, a Swedish clinician. Some have considered the condition to be imprecisely defined.
The unhappy triad, also known as a blown knee among other names, is an injury to the anterior cruciate ligament, medial collateral ligament, and meniscus. Analysis during the 1990s indicated that this 'classic' O'Donoghue triad is actually an unusual clinical entity among athletes with knee injuries. Some authors mistakenly believe that in this type of injury, "combined anterior cruciate and medial collateral ligament disruptions that were incurred during athletic endeavors" always present with concomitant medial meniscus injury. However, the 1990 analysis showed that lateral meniscus tears are more common than medial meniscus tears in conjunction with sprains of the ACL.
Mystery Diagnosis is a television docudrama series that aired on Discovery Health Channel and OWN: Oprah Winfrey Network. Each episode focuses on two or more individuals who have struggled with obscure medical ailments, and their quest for a diagnosis. The program details the patients' and doctors' difficulty in pinpointing a diagnosis; often due to nonspecific symptoms, masquerading syndromes, the rarity of the condition or disease, or the patient's case being an unusual manifestation of said condition or disease.
The trauma triad of death is a medical term describing the combination of hypothermia, acidosis, and coagulopathy. This combination is commonly seen in patients who have sustained severe traumatic injuries and results in a significant rise in the mortality rate. Commonly, when someone presents with these signs, damage control surgery is employed to reverse the effects.
In hematology, plasma cell dyscrasias are a spectrum of progressively more severe monoclonal gammopathies in which a clone or multiple clones of pre-malignant or malignant plasma cells over-produce and secrete into the blood stream a myeloma protein, i.e. an abnormal monoclonal antibody or portion thereof. The exception to this rule is the disorder termed non-secretory multiple myeloma; this disorder is a form of plasma cell dyscrasia in which no myeloma protein is detected in serum or urine of individuals who have clear evidence of an increase in clonal bone marrow plasma cells and/or evidence of clonal plasma cell-mediated tissue injury. Here, a clone of plasma cells refers to group of plasma cells that are abnormal in that they have an identical genetic identity and therefore are descendants of a single genetically distinct ancestor cell.
Cryofibrinogenemia refers to a condition classified as a fibrinogen disorder in which a person's blood plasma is allowed to cool substantially, causing the (reversible) precipitation of a complex containing fibrinogen, fibrin, fibronectin, and, occasionally, small amounts of fibrin split products, albumin, immunoglobulins and other plasma proteins.
Cryoglobulinemic vasculitis is a form of inflammation affecting the blood vessels caused by the deposition of abnormal proteins called cryoglobulins. These immunoglobulin proteins are soluble at normal body temperatures, but become insoluble below 37 °C (98.6 °F) and subsequently may aggregate within smaller blood vessels. Inflammation within these obstructed blood vessels is due to the deposition of complement proteins which activate inflammatory pathways.
Austrian syndrome, also known as Osler's triad, is a medical condition that was named after Robert Austrian in 1957. The presentation of the condition consists of pneumonia, endocarditis, and meningitis, all caused by Streptococcus pneumoniae. It is associated with alcoholism due to hyposplenism and can be seen in males between the ages of 40 and 60 years old. Robert Austrian was not the first one to describe the condition, but Richard Heschl or William Osler were not able to link the signs to the bacteria because microbiology was not yet developed.
Clodoveo Ferri is an Italian researcher of clinical rheumatology, immunology and internal medicine. Since January 2003, Clodoveo Ferri has been a professor of rheumatology, Chief of the Chair of Rheumatology and director of the Postgraduate School of Rheumatology at the University of Modena and Reggio Emilia in Modena, Italy. A native of Cropani, a small town in Calabria, Italy, Clodoveo Ferri graduated cum laude from the University of Pisa and later specialized in internal medicine and rheumatology.
Cold sensitive antibodies (CSA) are antibodies sensitive to cold temperature. Some cold sensitive antibodies are pathological and can lead to blood disorder. These pathological cold sensitive antibodies include cold agglutinins, Donath–Landsteiner antibodies, and cryoglobulins which are the culprits of cold agglutinin disease, paroxysmal cold hemoglobinuria in the process of Donath–Landsteiner hemolytic anemia, and vasculitis, respectively.
References
- ↑ "Cryoglobulinaemia. Free medical information. Patient". patient.info.
- ↑ "Cryoglobulinemia Clinical Presentation: History, Physical Examination". emedicine.medscape.com. Retrieved 2023-09-20.
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