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In biochemistry, a hypothetical protein is a protein whose existence has been predicted, but for which there is a lack of experimental evidence that it is expressed in vivo. Sequencing of several genomes has resulted in numerous predicted open reading frames to which functions cannot be readily assigned. These proteins, either orphan or conserved hypothetical proteins, make up an estimated 20% to 40% of proteins encoded in each newly sequenced genome. The real evidences for the hypothetical protein functioning in the metabolism of the organism can be predicted by comparing its sequence or structure homology by considering the conserved domain analysis. Even when there is enough evidence that the product of the gene is expressed, by techniques such as microarray and mass spectrometry, it is difficult to assign a function to it given its lack of identity to protein sequences with annotated biochemical function. Nowadays, most protein sequences are inferred from computational analysis of genomic DNA sequence. Hypothetical proteins are created by gene prediction software during genome analysis. When the bioinformatic tool used for the gene identification finds a large open reading frame without a characterised homologue in the protein database, it returns "hypothetical protein" as an annotation remark. The function of a hypothetical protein can be predicted by domain homology searches with various confidence levels. Conserved domains are available in the hypothetical proteins which need to be compared with the known family domains by which hypothetical protein could be classified into particular protein families even though they have not been in vivo investigated. The function of hypothetical protein could also be predicted by homology modelling, in which hypothetical protein has to align with known protein sequence whose three dimensional structure is known and by modelling method if structure predicted then the capability of hypothetical protein to function could be ascertained computationally. Further, approaches to annotate function to hypothetical proteins include determination of 3-dimensional structure of these proteins by structural genomics initiatives, understanding the nature and mode of prosthetic group/metal ion binding, fold similarity with other proteins of known functions and annotating possible catalytic site and regulatory site. Structure prediction with biochemical function assessment by screening for various substrate is another promising approach to annotate function Predicted proteins
XYYYY syndrome, also known as 49,XYYYY, is an exceptionally rare chromosomal disorder in which a male human has three additional copies of the Y chromosome. Only seven non-mosaic cases of the disorder have ever been recorded in the medical literature, as well as five mosaic cases, of which two had more 48,XYYY than 49,XYYYY cells. Due to the extreme rarity of the disorder, little is understood about it, and the phenotype appears to be variable. Rare chromosomal disorder
Urocanic aciduria is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase. It is a secondary disorder of histidine metabolism. Medical condition
Interleukin 21 (IL-21) is a protein that in humans is encoded by the IL21 gene. Interleukin-21 is a cytokine that has potent regulatory effects on cells of the immune system, including natural killer (NK) cells and cytotoxic T cells that can destroy virally infected or cancerous cells. This cytokine induces cell division/proliferation in its target cells. Mammalian protein found in humans
An optic nerve melanocytoma is a tumor made up of melanocytes and melanin. Melanocytomas are typically a benign meaning they can grow, but rarely transform into a malignancy. Even so, local growth can affect adjacent tissues. Most optic nerve melanocytomas are small, black, and do not grow. Most optic nerve tumors are gliomas that occur somewhere along the anterior visual pathway.
Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. The disease has two forms: Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency. Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins. Disorder of lipoprotein metabolism
Phakomatosis pigmentovascularis is a rare neurocutanous condition where there is coexistence of a capillary malformation with various melanocytic lesions, including dermal melanocytosis, nevus spilus, and nevus of Ota. Medical condition
In anatomy, a persistent left superior vena cava is the most common variation of the thoracic venous system. It is present in between 0.3% and 0.5% of the population, and is an embryologic remnant that results from a failure to involute. Medical condition
Tonic tensor tympani syndrome is a disease of the tensor tympani muscle, described by Klochoff et al. in 1971. It involves a decrease in the contraction threshold of the tensor tympani. This hypercontraction leads to chronic ear pain, in particular in the case of hyperacusis and acoustic shock. Medical condition
Persistent fetal vasculature (PFV), also known as persistent fetal vasculature syndrome (PFVS), and until 1997 known primarily as persistent hyperplastic primary vitreous (PHPV), is a rare congenital anomaly which occurs when blood vessels within the developing eye, known as the embryonic hyaloid vasculature network, fail to regress as they normally would in-utero after the eye is fully developed. Defects which arise from this lack of vascular regression are diverse; as a result, the presentation, symptoms, and prognosis of affected patients vary widely, ranging from clinical insignificance to irreversible blindness. The underlying structural causes of PFV are considered to be relatively common, and the vast majority of cases do not warrant additional intervention. When symptoms do manifest, however, they are often significant, causing detrimental and irreversible visual impairment. Persistent fetal vasculature heightens the lifelong risk of glaucoma, cataracts, intraocular hemorrhages, and Retinal detachments, accounting for the visual loss of nearly 5% of the blind community in the developed world. In diagnosed cases of PFV, approximately 90% of patients with a unilateral disease have associated poor vision in the affected eye. The presentation of persistent fetal vasculature is generally classified into three forms: purely anterior, purely posterior, or a mix of both. Combined expressions of both classifications are by far the most common presentation, accounting for up to 62% of all cases. Purely posterior presentations are often considered to be the most extreme variant and have the least successful surgical and visual outcomes. The majority of PFV cases are unilateral, affecting only one eye, though roughly 2.4% to 11% of cases are bilateral, impacting both eyes. Bilateral cases have generally poor visual outcomes and warrant heightened intervention regardless of presentation. They also may follow an autosomal recessive or autosomal dominant inheritance pattern, while no inheritance patterns have been conclusively identified for unilateral cases. Medical condition
Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum. Two or more of these features need to be present for a clinical diagnosis—only 30% of patients have all three. French-Swiss doctor Georges de Morsier first recognized the relation of a rudimentary or absent septum pellucidum with hypoplasia of the optic nerves and chiasm in 1956. Medical condition
Methylepitiostanol, known by the nicknames Epistane, Hemapolin, Havoc, and Epi Plex, is a synthetic and orally active anabolic–androgenic steroid (AAS) of the dihydrotestosterone (DHT) group which was first described in the literature in 1974 but was never marketed for medical use. It is the 17α-methylated derivative of epitiostanol, an AAS and antiestrogen which was formerly used in the treatment of breast cancer in Japan. Similarly to mepitiostane, methylepitiostanol is an orally active variant of epitiostanol. Due to its C17α methyl group, the drug is considered to have a high potential for hepatotoxicity. Methylepitiostanol surfaced on the internet as a novel designer steroid in dietary supplements around 2009. It was identified in 2015 in over 30 products sold online that listed it as an ingredient on their product label. It became a controlled substance in the United States in 2014 with the passage of the Designer Anabolic Steroid Control Act, being one of the 27 new steroids explicitly listed as controlled by the Act. Chemical compound
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome, also simply known as Hartsfield syndrome, is a rare genetic disorder characterized by the presence of variable holoprosencephaly, ectrodactyly, cleft lip and palate, alongside generalized ectodermal abnormalities. Additional findings include endocrine anomalies and developmental delays. Medical condition
Optic nerve sheath meningiomas (ONSM) are rare benign tumors of the optic nerve. 60–70% of cases occur in middle age females, and is more common in older adults. It is also seen in children, but this is rare. The tumors grow from cells that surround the optic nerve, and as the tumor grows, it compresses the optic nerve. This causes loss of vision in the affected eye. Rarely, it may affect both eyes at the same time. It is typically a slow growing tumor, and has never been reported to cause death. However, there is concern that the tumor can grow into the brain and cause other types of neurological damage. In some patients, the tumor grows so slowly that treatment is not necessary. Standard treatments are observation, surgery, radiation therapy, and combinations of the above.
Pelvic compression syndrome is characterized by intermittent or persisting pain in the abdomen, which is exacerbated by abdominal pressure. A swelling of the veins in the valveless pampiniform plexus causes it. Medical condition
Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity. It occurs most often in infants and young children but also has been reported in adults. In a retrospective review of 204 children with lung tumors, pleuropulmonary blastoma and carcinoid tumor were the most common primary tumors. Pleuropulmonary blastoma is regarded as malignant. The male:female ratio is approximately one. Medical condition
Testosterone/dutasteride is a combination formulation of testosterone, an androgen, and dutasteride, a 5α-reductase inhibitor, which was under development by GlaxoSmithKline for the treatment of hypogonadism in men in the 2000s. It reached phase II clinical trials prior to the discontinuation of its development. Combination drug
Steroid 11β-hydroxylase, also known as steroid 11β-monooxygenase, is a steroid hydroxylase found in the zona glomerulosa and zona fasciculata of the adrenal cortex. Named officially the cytochrome P450 11B1, mitochondrial, it is a protein that in humans is encoded by the CYP11B1 gene. The enzyme is involved in the biosynthesis of adrenal corticosteroids by catalyzing the addition of hydroxyl groups during oxidation reactions. Protein found in mammals
Non-specific lipid-transfer protein also known as sterol carrier protein 2 (SCP-2) or propanoyl-CoA C-acyltransferase is a protein that in humans is encoded by the SCP2 gene. Protein
Pure apocrine carcinoma of the breast (PACB) is a rare carcinoma derived from the epithelial cells in the lactiferous ducts of the mammary gland. The mammary gland is an apocrine gland. Its lactiferous ducts have two layers of epithelial cells, a luminal layer which faces the duct's lumen and a basal layer which lies beneath the luminal layer. There are at least four subtypes of epithelial cells in these ducts: luminal progenitor cells and luminal mature cells which reside in the luminal layer and mammary stem cells and basal cells which reside in the basal layer. Examination of the genes expressed in PACB cancer cells indicate that most of these tumors consist of cells derived from luminal cells but a minority of these tumors consist of cells derived from basal cells. Invasive apocrine carcinomas of the breast with an appreciable amount of apocrine gland-like tissue was termed apocrine breast tumors for decades when in 1988 d'Amore et al named a subset of these carcinomas in which >90% of its tissue consisted of apocrine gland-like tissue as pure invasive apocrine carcinoma. In 2010, Vranic and colleagues added further to the definition of PACP to establish the criteria currently used for its diagnosis. They defined it as a carcinoma that: a) has a component(s) which invades adjacent tissue; b) consists of >90% apocrine gland-like tissue; c) has at least 10% of its cancer cells that express androgen receptors; and d) lacks cancer cells that express estrogen receptors and progesterone receptors. Many PACB tumors have cancer cells which overexpress the HER2/neu receptor-like protein. The World Health Organization (2019) did not define any of the other invasive apocrine carcinomas as diagnostically distinct entities, but did recognize invasive ductal breast carcinoma in which >90% of its cancer cells were apocrine gland cells as "carcinoma with apocrine differentiation." Non-invasive apocrine carcinoma of the breast, i.e. apocrine ductal carcinoma in situ, is classified as a variant of ductal carcinoma in situ breast tumors. Invasive carcinomas consisting of 10%–90% apocrine tumor tissue have been termed apocrine-like invasive carcinoma; these carcinomas sometime have estrogen receptor-positive and/or progesterone receptor-positive tumor cells. Both of these carcinomas are described in the last section of this article. As defined by the criteria established by Vranic and colleagues, PACB is a rare carcinoma that accounts for about 1% of all breast cancers, occurs primarily in postmenopausal females, and usually presents as an asymptomatic mass that in many cases has spread to nearby axillary lymph nodes. While earlier studies used only some of these criteria to diagnose PACB, the studies reviewed here used all four of them. Medical condition
White Elephant was mentioned in the Shahnameh at the time of Zāl and the tribe in Zablian was caring for it. At this time, Rostam was still a teenager and had not participated in any wars. Rostam's first courage was to kill the white elephant. An animal in the Shahnameh
Primary cutaneous amyloidosis is a form of amyloidosis associated with oncostatin M receptor. This type of amyloidosis has been divided into the following types: Macular amyloidosis is a cutaneous condition characterized by itchy, brown, rippled macules usually located on the interscapular region of the back. Combined cases of lichen and macular amyloidosis are termed biphasic amyloidosis, and provide support to the theory that these two variants of amyloidosis exist on the same disease spectrum. Lichen amyloidosis is a cutaneous condition characterized by the appearance of occasionally itchy lichenoid papules, typically appearing bilaterally on the shins. Nodular amyloidosis is a rare cutaneous condition characterized by nodules that involve the acral areas. Medical condition
Warburg Micro syndrome (WARBM), a Complex Hereditary Spastic Paraplegia or RAB18 Deficiency, is a rare autosomal recessive genetic disorder characterized by congenital cataract, hypotonia, spastic diplegia, intellectual or developmental disability, microcephaly, microcornea, optic atrophy, and hypogenitalism. Medical condition
Proliferating cell nuclear antigen (PCNA) is a DNA clamp that acts as a processivity factor for DNA polymerase δ in eukaryotic cells and is essential for replication. PCNA is a homotrimer and achieves its processivity by encircling the DNA, where it acts as a scaffold to recruit proteins involved in DNA replication, DNA repair, chromatin remodeling and epigenetics. Many proteins interact with PCNA via the two known PCNA-interacting motifs PCNA-interacting peptide (PIP) box and AlkB homologue 2 PCNA interacting motif (APIM). Proteins binding to PCNA via the PIP-box are mainly involved in DNA replication whereas proteins binding to PCNA via APIM are mainly important in the context of genotoxic stress. Mammalian protein found in Homo sapiens
Tuberculoid leprosy is a form of leprosy characterized by solitary skin lesions that are asymmetrically distributed with few lesions and well demarcated edges. There is also early and marked nerve damage. It tends to heal spontaneously. Tuberculoid leprosy is characterized by the formation of epithelioid cell granulomas consisting of a large number of epithelioid cells. In this form of leprosy, Mycobacterium leprae are either absent from the lesion or occur in very small numbers. This type of leprosy is the most benign and the least contagious. Medical condition
Rabbitpox is a disease of rabbits caused by a virus of the genus Orthopoxvirus in the family Poxviridae, and closely related to vaccinia virus. Rabbitpox was first isolated at the Rockefeller Institute in New York in 1933, following a series of epidemics in the laboratory rabbits. It is an acute disease only known to infect laboratory rabbits as no cases have been reported in wild rabbits; it cannot infect humans. Species of virus
In psychiatry, thought withdrawal is the delusional belief that thoughts have been 'taken out' of the patient's mind, and the patient has no power over this. It often accompanies thought blocking. The patient may experience a break in the flow of their thoughts, believing that the missing thoughts have been withdrawn from their mind by some outside agency. This delusion is one of Schneider's first rank symptoms for schizophrenia. Because thought withdrawal is characterized as a delusion, according to the DSM-IV TR it represents a positive symptom of schizophrenia. Delusional belief that thoughts have been taken out of one's mind
Stocco dos Santos syndrome is an extremely rare multi-systemic genetic disorder which is present from birth. It is characterized by heart, skeletal, muscular abnormalities with accompanying intellectual disabilities. Medical condition
Trismus pseudocamptodactyly syndrome is a rare genetic condition. A defining feature is the inability to open the mouth completely (trismus). Other signs and symptoms include abnormally short tendons and muscles, resulting in contractures, club foot, and other musculoskeletal abnormalities. Medical condition
SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation (CDG) due to a mutation in the steroid 5 alpha reductase type 3 gene. It is one of over 150 documented types of Congenital disorders of Glycosylation. Like many other CDGs, SRD5A3 is ultra-rare, with around 38 documented cases in the world. It is an inheritable autosomal recessive disorder that causes developmental delays and problems with vision. The gene is located at 4q12, which is the long (q) arm of chromosome 4 at position 12. Medical condition
Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common features include coxa vara and retinitis pigmentosa. Only 10 cases of this disorder have been described in medical literature. This disorder is associated with mutations in the RNU4ATAC gene, on chromosome 2q14.2 Medical condition
RAP6 is the abbreviation for Rab5-activating protein 6, a novel endosomal protein with a role in endocytosis. RAP6 was discovered by Alejandro Barbieri and his group of researchers working at Florida International University. This novel human protein has been reported to be involved in membrane trafficking. It has been shown that RAP6 has a guanine nucleotide exchange factor (GEF) activity specific to Rab5 and a GTPase activating protein (GAP) activity specific to RAS. The original GeneBank Identifications (GIs) have been published in the NCBI Nucleotide databases with GIs 77176718 and 77176720. Since then, many names have been coined to the validated protein such as RabGEF1, GeneID: 27342. RAP6 belongs to the family of the GAPVD1, GeneID: 26130
Proliferative fasciitis and proliferative myositis (PF/PM) are rare benign soft tissue lesions that increase in size over several weeks and often regress over the ensuing 1–3 months. The lesions in PF/PM are typically obvious tumors or swellings. Historically, many studies had grouped the two descriptive forms of PF/PM as similar disorders with the exception that proliferative fasciitis occurs in subcutaneous tissues while proliferative myositis occurs in muscle tissues. In 2020, the World Health Organization agreed with this view and defined these lesions as virtually identical disorders termed proliferative fasciitis/proliferative myositis or proliferative fasciitis and proliferative myositis. The Organization also classified them as one of the various forms of the fibroblastic and myofibroblastic tumors. PF/PM lesions have been regarded as a tissue's self-limiting reaction to an injury or unidentified insult rather than an abnormal growth of a clone of neoplastic cells, that is, as a group of cells which share a common ancestry, have similar abnormalities in the expression and/or content of their genetic material, and often grow in a continuous and unrestrained manner. However, a recent study has found a common genetic abnormality in some of the cells in most PF/FM tumors. This suggests that PF/PM are, in at least most cases, neoplastic but nonetheless self-limiting and/or spontaneously reversing disorders. That is, they are examples of "transient neoplasms." In all events, PF/PM lesions are benign tumor growths that do not metastasize. PF/PM lesions may grow at alarming rates, exhibit abnormal histopathologies, and have other elements that are suggestive of a malignancy. Consequently, they have been mistakenly diagnosed as undifferentiated pleomorphic sarcoma, rhabdomyosarcoma, or other types of sarcoma and treated unnecessarily with aggressive measures used for such malignancies, e.g. wide surgical resection, radiation therapy, and chemotherapy. The majority of PF/PM lesions are successfully treated with strictly conservative and supportive measures. Medical condition
Pelvic congestion syndrome, also known as pelvic vein incompetence, is a long-term condition believed to be due to enlarged veins in the lower abdomen. The condition may cause chronic pain, such as a constant dull ache, which can be worsened by standing or sex. Pain in the legs or lower back may also occur. While the condition is believed to be due to blood flowing back into pelvic veins as a result of faulty valves in the veins, this hypothesis is not certain. The condition may occur or worsen during pregnancy. The presence of estrogen is believed to be involved in the mechanism. Diagnosis may be supported by ultrasound, CT scan, MRI, or laparoscopy. Early treatment options include medroxyprogesterone or nonsteroidal anti-inflammatory drugs (NSAIDs). Surgery to block the varicose veins may also be done. About 30% of women of reproductive age are affected. It is believed to be the cause of about a third of chronic pelvic pain cases. While pelvic venous insufficiency was identified in the 1850s it was only linked with pelvic pain in the 1940s. Medical condition
Tyrosinemia type I is a genetic disorder that disrupts the metabolism of the amino acid tyrosine, resulting in damage primarily to the liver along with the kidneys and peripheral nerves. The inability of cells to process tyrosine can lead to chronic liver damage ending in liver failure, as well as renal disease and rickets. Symptoms such as poor growth and enlarged liver are associated with the clinical presentation of the disease. If not detected via newborn screening and management not begun before symptoms appear, clinical manifestation of disease occurs typically within the first two years of life. The severity of the disease is correlated with the timing of onset of symptoms, earlier being more severe. If diagnosed through newborn screening prior to clinical manifestation, and well managed with diet and medication, normal growth and development is possible. Tyrosinemia type I is an autosomal recessive disorder caused by mutations in both copies of the gene encoding the enzyme fumarylacetoacetate hydrolase (FAH). FAH is a metabolic enzyme that catalyzes the conversion of fumarylacetoacetate to fumarate and acetoacetate.  It is expressed primarily in the liver and kidney. Loss of FAH activity results in the accumulation of certain metabolic intermediates in the tyrosine catabolic pathway. These compounds are toxic to cells and lead to differential gene expression and apoptosis in high concentrations. HT1 is diagnosed when elevated levels of succinylacetone (SA), one of the metabolites in this pathway, is detected in blood and urine samples. While there is no cure for tyrosinemia type I, management of the disease is possible utilizing dietary restrictions and medications. A diet low in tyrosine and phenylalanine is utilized indefinitely once a diagnosis is suspected or confirmed. Additionally, the drug nitisinone is prescribed and continued indefinitely in order to combat liver and kidney damage, promoting normal function of these organs. Prior to the development of nitisinone, dietary restrictions and liver transplantation were the only forms of treatment for HT1. Tyrosinemia type I is especially prevalent in the Saguenay-Lac Saint-Jean region of Quebec, where the prevalence is 1 in 1,850 births. It is most common among those with French-Canadian ancestry and this frequency of infliction has been attributed to the founder effect. There are five other known types of tyrosinemia, all of which derange the metabolism of tyrosine in the human body. They are distinguished by their symptoms and genetic cause. Medical condition
A urachal cyst is a sinus remaining from the allantois during embryogenesis. It is a cyst which occurs in the remnants between the umbilicus and bladder. This is a type of cyst occurring in a persistent portion of the urachus, presenting as an extraperitoneal mass in the umbilical region. It is characterized by abdominal pain, and fever if infected. It may rupture, leading to peritonitis, or it may drain through the umbilicus. Urachal cysts are usually silent clinically until infection, calculi or adenocarcinoma develop. Medical condition
A urachal diverticulum is a congenital disorder caused by the partial persistence of the allantois. The allantois, which later becomes the urachus, connects an embryo's bladder to the yolk sac. Normally, the urachus closes off to become the median umbilical ligament; however, if it does not seal close to the bladder, a blind pouch connected to the bladder remains. This is usually asymptomatic but can lead to recurrent urinary tract infections. If the urachus is wholly patent, urine can drain from the bladder to an opening by the umbilicus, a condition known as urachal fistula. Medical condition
Vonoprazan/amoxicillin/clarithromycin, sold under the brand name Vonosap among others, is a co-packaged medication used for the treatment of Helicobacter pylori infection. It contains vonoprazan, a potassium-competitive acid blocker; amoxicillin, a beta-lactam antibiotic; and clarithromycin, a macrolide antibiotic. It was approved for medical use in Japan in 2016, and in the United States in May 2022. The US Food and Drug Administration (FDA) considers it to be a first-in-class medication. Medication
Water for injection is water of extra high quality without significant contamination. A sterile version is used for making solutions that will be given by injection. Before such use other substances generally must be added to make the solution isotonic. Isotonic solutions containing water for injection can be given by injection into a vein, muscle, or under the skin. A non-sterile version may be used in manufacturing with sterilization occurring later in the production process. Very clean, sterile water
Reardon-Hall-Slaney syndrome, also known as mesomelic dwarfism-cleft palate-camptodactyly is a rare genetic disorder which is characterized by mesomelic limb shortening and bowing, finger camptodactyly, skin dimpling, retrognathia and mandibular hypoplasia. Only 2 cases of this syndrome have been described in medical literature, both of those cases being a brother and sister who were born to consanguineous parents. This disorder is inherited in an autosomal recessive fashion. Medical condition
Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin. Mammalian protein found in Homo sapiens
Thiel–Behnke dystrophy is a rare form of corneal dystrophy affecting the layer that supports corneal epithelium. The dystrophy was first described in 1967 and initially suspected to denote the same entity as the earlier-described Reis-Bucklers dystrophy, but following a study in 1995 by Kuchle et al. the two look-alike dystrophies were deemed separate disorders. Medical condition
RhoU is a small signaling G protein, and is a member of the Rho family of GTPases. Wrch1 was identified in 2001 as encoded by a non-canonical Wnt induced gene. RhoU/Wrch delineates with RhoV/Chp a Rho subclass related to Rac and Cdc42, which emerged in early multicellular organisms during evolution. G protein
Interleukin-28 receptor is a type II cytokine receptor found largely in epithelial cells. It binds type 3 interferons, interleukin-28 A, Interleukin-28B, interleukin 29 and interferon lambda 4. It consists of an α chain and shares a common β subunit with the interleukin-10 receptor. Binding to the interleukin-28 receptor, which is restricted to select cell types, is important for fighting infection. Binding of the type 3 interferons to the receptor results in activation of the JAK/STAT signaling pathway. Type II cytokine receptor
Trimix is a prescription combination drug containing alprostadil, papaverine, and phentolamine. It is used to treat erectile dysfunction. Treatment for erectile dysfunction
Tyrosinemia type III is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, encoded by the gene HPD. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination. Type III tyrosinemia is very rare; only a few cases have been reported. Medical condition
Suspension trauma, also known as orthostatic shock while suspended, harness hang syndrome (HHS), suspension syndrome, or orthostatic intolerance, is an effect which occurs when the human body is held upright without any movement for a period of time. If the person is strapped into a harness or tied to an upright object they will eventually suffer the central ischaemic response. Fainting while remaining vertical increases the risk of death from cerebral hypoxia. Since there is no evidence that these effects are specifically due to trauma, or caused by the harness itself, climbing medicine authorities have argued against the terminology of suspension trauma or harness hang syndrome and instead termed this simply "suspension syndrome". People at risk of suspension syndrome include people using industrial harnesses, people using harnesses for sporting purposes, stunt performers, circus performers, and occupations that require the use of harnesses and suspension systems in general. In the UK the term "suspension trauma" has been replaced by "syncope" or "pre-syncope" as "trauma" suggests that there has been a physical injury that has resulted in the fallen person becoming unconscious. In the circumstances where a person has fallen into suspension on a rope/lanyard and has become unconscious, it is thought that the unconscious state "syncope" is due to a combination of orthostasis or motionless vertical suspension, with "pre-syncope" being the state before the person becomes unconscious where the fallen person may experience symptoms such as light-headedness; nausea; sensations of flushing; tingling or numbness of the arms or legs; anxiety; visual disturbance; or faintness. HSE Research Report RR708 2009 1 Introduction page 5 paragraphs 1 and 3 refers. Type of medical trauma
Hyperthyroxinemia is a thyroid disease where the serum levels of thyroxine are higher than expected. Thyroxine or tetraiodothyronine (T4) is produced by the thyroid gland. The term is sometimes used to refer to hyperthyroidism, but hyperthyroidism is a more general term. When the level of thyroxine (T4) in the blood exceeds normal range, it can lead to symptoms such as irritability and unexplained weight loss. Types include: Familial dysalbuminemic hyperthyroxinemia Familial euthyroid hyperthyroxinemia Thyroid hormone resistance syndrome Medical condition
A radial scar, formally radial scar of the breast, is a benign breast lesion that can radiologically mimic malignancy, i.e. cancer. Radial scar is associated with atypia and/or malignancy and may be an independent risk factor for the development of carcinoma in either breast. Medical condition
X-linked reticulate pigmentary disorder is a rare X-linked genetic condition in which males manifest multiple systemic symptoms and a reticulated mottled brown pigmentation of the skin, which, on biopsy, demonstrated dermal deposits of amyloid. Females usually only have linear streaks of hyperpigmentation. The syndrome can also be referred to by the acronym X-Linked-PDR or XLPRD. Its a very rare recessive disease, genetically determined, with a chronic course. It was characterized in 1981. Mutation of the POLA1 gene lead to loss of expression of the catalytic subunit of DNA polymerase-α and is responsible for XLPDR. Loss of POLA1 expression resulted in reduced levels of RNA:DNA hybrids in the cytosol and unexpectedly triggered aberrant immune responses which in part can account for the symptoms associated with XLPDR. Another trigger of the immunodeficiency phenotype is a functional deficiency of Natural killer (NK) cells, which are major players in innate antiviral immune system. Rare X-linked genetic condition
A ureterovaginal fistula is an abnormal passageway existing between the ureter and the vagina. It presents as urinary incontinence. Its impact on women is to reduce the "quality of life dramatically." Medical condition
A metastatic insulinoma is a rare form of a malignant insulinoma involving metastatic growth. An insulinoma is a small tumor localized to the pancreas, originating from islet beta cells, which produce an excess of insulin. The increase in insulin ultimately leads to hypoglycemia. Insulinomas are commonly benign tumors, but can metastasize and become malignant. The metastatic growth can be characterized as a local invasion or distal metastasis. However, insulinomas are often difficult to detect due to their relatively small size, with a diameter oftentimes less than 2 cm. Therefore, clinical appearance and pathology are not sufficient in diagnosing a malignant insulinoma. Malignant insulinomas are not easily treated, as they require various treatments dependent on each person's case. Rare form of a malignant insulinoma involving metastatic growth
In molecular biology, the NELF is a four-subunit protein complex that negatively impacts transcription by RNA polymerase II by pausing about 20-60 nucleotides downstream from the transcription start site (TSS). Protein
VLDLR-associated cerebellar hypoplasia (VLDLRCH) is a rare autosomal recessive condition caused by a disruption of the VLDLR gene. First described as a form of cerebral palsy in the 1970s, it is associated with parental consanguinity and is found in secluded communities, with a number of cases described in Hutterite families. Medical condition
Mietens syndrome is a autosomal recessive disorder first described by Mietens and Weber. The condition is named after a German physician named Carl Mietens. Only 9 cases have been reported. Medical condition
Kyphoscoliosis describes an abnormal curvature of the spine in both the coronal and sagittal planes. It is a combination of kyphosis and scoliosis. This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of lungs, pulmonary hypertension, difficulty in performing day-to-day activities, psychological issues emanating from anxiety about acceptance among peers, especially in young patients. It can also be seen in syringomyelia, Friedreich's ataxia, spina bifida, kyphoscoliotic Ehlers–Danlos syndrome (kEDS), and Duchenne muscular dystrophy due to asymmetric weakening of the paraspinal muscles. Medical condition
Zinc finger protein 831 is a protein that in humans is encoded by the ZNF831 gene.
Muscarinic toxin 7 (MT7) is one member of a family of small peptides of 65 amino acid residues derived from the venom of African mamba snakes, which mainly target M1-subtype of muscarinic receptor. Muscarinic toxins like the nicotinic toxins have the three-finger fold structure, characteristic of the large superfamily of toxins that act at cholinergic synapses. MT7 is likely to bind to the human M1 receptor in its dimer form with the tips of MT7 loops II and III contacting one hM1 protomer and the tip of loop I binds to the other protomer.
Metastatic carcinoma is cancer that is able to grow at sites distant from the primary site of origin; thus, dissemination to the skin may occur with any malignant neoplasm, and these infiltrates may result from direct invasion of the skin from underlying tumors, may extend by lymphatic or hematogenous spread, or may be introduced by therapeutic procedures. The most common malignancy found in bone is metastatic carcinoma. Malignancy that develops from epithelial cells
The interleukin-27 receptor is a type I cytokine receptor for interleukin-27. It is a heterodimer composed of the interleukin 27 receptor, alpha subunit and glycoprotein 130. IL27RA essential for transcriptional activation of STAT1 and for augmenting the induction of T-bet expression during initiation of Th1 cell differentiation. Type I cytokine receptor for interleukin-27
The ST2 cardiac biomarker is a protein biomarker of cardiac stress encoded by the IL1RL1 gene. ST2 signals the presence and severity of adverse cardiac remodeling and tissue fibrosis, which occurs in response to myocardial infarction, acute coronary syndrome, or worsening heart failure. ST2 provides prognostic information that is independent of other cardiac biomarkers such as BNP, NT-proBNP, highly sensitive troponin, GDF-15, and galectin-3. One study indicated that discrimination is independent of age, body mass index, history of heart failure, anemia and impaired kidney function or sex. Member of the interleukin 1 receptor family.
Lignin-modifying enzymes (LMEs) are various types of enzymes produced by fungi and bacteria that catalyze the breakdown of lignin, a biopolymer commonly found in the cell walls of plants. The terms ligninases and lignases are older names for the same class, but the name "lignin-modifying enzymes" is now preferred, given that these enzymes are not hydrolytic but rather oxidative by their enzymatic mechanisms. LMEs include peroxidases, such as lignin peroxidase, manganese peroxidase, versatile peroxidase, and many phenoloxidases of the laccase type. LMEs have been known to be produced by many species of white rot basidiomycetous fungi, including: Phanerochaete chrysosporium, Ceriporiopsis subvermispora, Trametes versicolor, Phlebia radiata, Pleurotus ostreatus and Pleurotus eryngii. LMEs are produced not only by wood-white rotting fungi but also by litter-decomposing basidiomycetous fungi such as Agaricus bisporus, and many Coprinus and Agrocybe species. The brown-rot fungi, which are able to colonize wood by degrading cellulose, are only able to partially degrade lignin. Some bacteria also produce LMEs, although fungal LMEs are more efficient in lignin degradation. Fungi are thought to be the most substantial contributors to lignin degradation in natural systems. LMEs and cellulases are crucial to ecologic cycles because they allow plant tissue to be decomposed quickly, releasing the matter therein for reuse by new generations of life. LMEs are also crucial to a number of different industries.
Soemmering ring is an annular swelling of the periphery of the lens capsule. In 1828, Detmar Wilhelm Sömmerring observed posterior capsule opacification and then described Soemmering's ring as deposits of retained equatorial lens epithelial cells which continue to proliferate and form new cortical fibers which eventually form a ring of cortical fibers between the posterior capsule and the edges of the anterior capsule remnant. Medical condition
Spectrophobia or catoptrophobia is a kind of specific phobia involving an abnormal and persistent fear of mirrors, and an anxiety about seeing one's own face reflected in them. It is sometimes related to the fear of ghosts or the undead. This phobia is distinct from eisoptrophobia, which is the fear of one's own reflection. Sufferers of spectrophobia can fear the breaking of a mirror bringing extreme bad luck. They can fear the thought of something frightening jumping out of the mirror, or seeing something disturbing inside of it next to their own reflection when looking directly at it. Others fear that it is a link to the preternatural world or a gateway into another world, and may fear being pulled into the mirror by some preternatural force. Some also fear their own reflection in the darkness, as it can appear distorted in strange ways or their reflection may frighten them. Fear of mirrors
Stimmler syndrome is a rare autosomal recessive congenital disorder first described by Stimmler et al. in 1970. It is characterized by dwarfism, diabetes, a small head, and high levels of alanine in the urine. Medical condition
Red thread disease is a fungal infection found on lawns and other turfed areas. It is caused by the corticioid fungus Laetisaria fuciformis and has two separate stages. The stage that gives the infection its name is characterised by very thin, red, needle-like strands extending from the grass blade. These are stromata, which can remain viable in soil for two years. After germinating, the stromata infect grass leaf blades through their stomata. The other stage is visible as small, pink, cotton wool-like mycelium, found where the blades meet. It is common when both warmth and humidity are high. Environment Laetisaria fuciformis, the fungus that causes red thread disease develops more often in cool and wet conditions.1 These conditions are more present in the spring and fall when rainfall is higher and temperatures are slightly lower. Over 77 °F (25 °C), the growth rate of the fungus decreases significantly, and it ceases at 85 °F (29 °C).8 Turf grass that is poor in nutrition and are slow growing are areas that are more susceptible to red thread disease.2 The fungus grows from the thread like red webbing structures called sclerotia.1 The sclerotia can survive in leaf blades, thatch, and soil for months to years. These areas that have been infected spread the disease by water, wind, and contaminated equipment.1 Since this fungus can survive for long periods of time it is essential to cure the infected area so further spreading of the disease does not occur. Management Managing red thread disease first starts by providing conditions that are not favorable for the fungal disease to develop. Having a balanced and adequate nitrogen fertilization program helps suppress the disease.3 A light application of quick release nitrogen reduces disease severity and is generally the only treatment necessary on residential lawns.8 This includes applying mild to substantial amounts of phosphorus and potassium to the turf. Other than properly fertilizing the turf, it is very important to maintain a soil pH between 6.5 and 7.3 Having a more basic pH creates less favorable conditions for a fungus to form. Reducing shade on turf areas also reduces chances of the fungal disease to form because shaded areas create a higher humidity near the turfs surface.3 Another technique to suppressing red thread disease is top dressing with compost.4 Suppression of the disease increases with the increase of compost used on the turf.4 Another way to protect the grass in the area is to overseed with resistant varieties of turfgrass. Several resistant varieties of perennial ryegrass, fescues, and Kentucky bluegrass are available.8 Fungicides are not recommended to control red thread because the cost of chemical control is expensive and turf grasses usually recover from the disease quickly. 1 If the use of fungicides is necessary, products containing strobilurins can be applied and can be very effective if applied before symptoms occur.1 Hosts and symptoms The hosts of the red thread disease only include turf grass. Turf grass is primarily present on home lawns and sports fields. Some of these turf grass species include annual bluegrass, creeping bentgrass, Kentucky bluegrass, perennial ryegrass, fine fescue, and bermudagrass.5 These species of grass are not the only types of turf that can be diagnosed with red thread disease but are the most common hosts.5 Noticeable symptoms of red thread disease are irregular yellow patches on the turf that are 2 to 24 inches in diameter.6 Affected areas are diagnosed with faintly pinkish web like sclerotia on the leaf blades.6 This sclerotia is the fungus growing on the leaf blades.6 This sclerotia has a reddish to pink spider web look to it. The sclerotia are branched and they may extend up to 0.4 inches (10 mm) beyond the end of the leaf tip. 7 Fungal plant disease
Hypotrichosis with juvenile macular dystrophy is an extremely rare congenital disease characterized by sparse hair growth (hypotrichosis) from birth and progressive macular corneal dystrophy. Medical condition
Moricin is a highly basic antibacterial peptide that was isolated from the silkworm Bombyx mori. It consists of a long alpha-helix with 8 turns from a 42 amino acid sequence over almost the entire protein. The amphipathic N-terminal segment of the alpha- helix is mainly responsible for the increase in permeability of the bacterial membrane which kills the bacteria. Moricin functions as an antibacterial peptide against Gram-positive and Gram-negative bacteria, with its main activity being towards Gram-positive bacteria.
Acute eosinophilic leukemia (AEL) is a rare subtype of acute myeloid leukemia with 50 to 80 percent of eosinophilic cells in the blood and marrow. It can arise de novo or may develop in patients having the chronic form of a hypereosinophilic syndrome. Patients with acute eosinophilic leukemia have a propensity for developing bronchospasm as well as symptoms of the acute coronary syndrome and/or heart failure due to eosinophilic myocarditis and eosinophil-based endomyocardial fibrosis. Hepatomegaly and splenomegaly are more common than in other variants of AML. Medical condition
Rhinitis, also known as coryza, is irritation and inflammation of the mucous membrane inside the nose. Common symptoms are a stuffy nose, runny nose, sneezing, and post-nasal drip. The inflammation is caused by viruses, bacteria, irritants or allergens. The most common kind of rhinitis is allergic rhinitis, which is usually triggered by airborne allergens such as pollen and dander. Allergic rhinitis may cause additional symptoms, such as sneezing and nasal itching, coughing, headache, fatigue, malaise, and cognitive impairment. The allergens may also affect the eyes, causing watery, reddened, or itchy eyes and puffiness around the eyes. The inflammation results in the generation of large amounts of mucus, commonly producing a runny nose, as well as a stuffy nose and post-nasal drip. In the case of allergic rhinitis, the inflammation is caused by the degranulation of mast cells in the nose. When mast cells degranulate, they release histamine and other chemicals, starting an inflammatory process that can cause symptoms outside the nose, such as fatigue and malaise. In the case of infectious rhinitis, it may occasionally lead to pneumonia, either viral or bacterial. Sneezing also occurs in infectious rhinitis to expel bacteria and viruses from the respiratory tract. Rhinitis is very common. Allergic rhinitis is more common in some countries than others; in the United States, about 10–30% of adults are affected annually. Mixed rhinitis (MR) refers to patients with nonallergic rhinitis and allergic rhinitis. MR is a specific rhinitis subtype. It may represent between 50 and 70% of all AR patients. However, true prevalence of MR has not been confirmed yet. Irritation and inflammation of the mucous membrane inside the nose
The Wiskott–Aldrich syndrome protein (WASp) is a 502-amino acid protein expressed in cells of the hematopoietic system that in humans is encoded by the WAS gene. In the inactive state, WASp exists in an autoinhibited conformation with sequences near its C-terminus binding to a region near its N-terminus. Its activation is dependent upon CDC42 and PIP2 acting to disrupt this interaction, causing the WASp protein to 'open'. This exposes a domain near the WASp C-terminus that binds to and activates the Arp2/3 complex. Activated Arp2/3 nucleates new F-actin. WASp is the founding member of a gene family which also includes the broadly expressed N-WASP, SCAR/WAVE1, WASH, WHAMM, and JMY. WAML, WAWH, and WHIMP have more recently been discovered. Mammalian protein found in humans
Lavender foal syndrome (LFS), also called coat color dilution lethal (CCDL), is an autosomal recessive genetic disease that affects newborn foals of certain Arabian horse bloodlines. Affected LFS foals have severe neurological abnormalities, cannot stand, and require euthanasia shortly after birth. The popular name originates due to a diluted color of the foal's coat, that in some cases appears to have a purple or lavender hue. However, not all foals possess the lavender coat colour, and colouring can range from silver to light chestnut to a pale pink. Carrier horses have no clinical signs and DNA testing can determine if a horse carries the gene. Genetic disease in horses
Warfarin resistance is a rare condition in which people have varying degrees of tolerance to the anticoagulant drug warfarin. In incomplete warfarin resistance, people only respond to high doses of warfarin; in complete warfarin resistance, the drug has no effect. This can be because the drug is metabolized quickly or because the clotting cascade does not interact with warfarin as it should. One gene that has been identified in warfarin resistance is VKORC1, a gene responsible for warfarin metabolism. It is inherited in an autosomal dominant pattern. Medical condition
Neonatal-onset multisystem inflammatory disease is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin rashes, severe arthritis, and chronic meningitis leading to neurologic damage. It is one of the cryopyrin-associated periodic syndromes. NOMID can result from a mutation in the CIAS1 gene, which helps control inflammation. Mutations in this gene also cause familial cold urticaria and Muckle–Wells syndrome. NOMID has been successfully treated with the drug anakinra. This syndrome is also known as the Prieur–Griscelli syndrome as it was first described by these authors in 1981. Medical condition
Louping-ill is an acute viral disease primarily of sheep that is characterized by a biphasic fever, depression, ataxia, muscular incoordination, tremors, posterior paralysis, coma, and death. Louping-ill is a tick-transmitted disease whose occurrence is closely related to the distribution of the primary vector, the sheep tick Ixodes ricinus. It also causes disease in red grouse, and can affect humans. The name 'louping-ill' is derived from an old Scottish word describing the effect of the disease in sheep whereby they 'loup' or spring into the air. Animal disease
Lecithin–cholesterol acyltransferase is an enzyme, in many animals including humans, that converts free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle, eventually making the newly synthesized HDL spherical and forcing the reaction to become unidirectional since the particles are removed from the surface. The enzyme is bound to high-density lipoproteins (HDLs) (alpha-LCAT) and LDLs (beta-LCAT) in the blood plasma. LCAT deficiency can cause impaired vision due to cholesterol corneal opacities, anemia, and kidney damage. It belongs to the family of phospholipid:diacylglycerol acyltransferases. Mammalian protein found in Homo sapiens
Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing intellectual disability and other serious health problems. In healthy individuals, it is metabolised (hydroxylated) into tyrosine, another amino acid, by phenylalanine hydroxylase. However, this enzyme requires tetrahydrobiopterin as a cofactor and thus its deficiency slows phenylalanine metabolism. High levels of phenylalanine are present from infancy in people with untreated tetrahydrobiopterin (THB, BH4) deficiency. The resulting signs and symptoms range from mild to severe. Mild complications may include temporary low muscle tone. Severe complications include intellectual disability, movement disorders, difficulty swallowing, seizures, behavioral problems, progressive problems with development, and an inability to control body temperature. It was first characterized in 1975. Medical condition
Littoral cell angioma, abbreviated LCA, and formally known as littoral cell angioma of the spleen, is a benign tumour of the spleen that arises from the cells that line the red pulp. Medical condition
MonoMAC syndrome is a rare autosomal dominant syndrome associated with: monocytopenia, B and NK cell lymphopenia; mycobacterial, viral, fungal, and bacterial opportunistic infections; and virus infection-induced cancers. The disorder often progresses to the development of myelodysplasia, myeloid leukemias, and other types of cancer. MonoMAC is a life-threatening and precancerous disorder. Inactivating mutations in one of the two parental GATA2 genes is responsible for the many diverse presentations of a genetic disorder that groups these presentations together into a single disease termed GATA2 deficiency. These autosomal dominant mutations are known or presumed to cause a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, GATA2. The GATA2 protein is a transcription factor critical for the embryonic development, maintenance, and functionality of blood-forming, lympathic-forming, and other tissue-forming stem cells. In consequence of these mutations, cellular levels of GATA2 are deficient and individuals develop over time hematological, immunological, lymphatic, and/or other disorders that may begin as apparently benign abnormalities but commonly progress to severe organ failure, enhanced susceptibility to opportunistic infections, virus infection-induced cancers, the myelodysplastic syndrome, and/or various types of leukemia. MonoMAC is a presentation of GATA2 deficiency that involves primarily signs and symptoms of immune deficiency that cause an extremely high susceptibility to infections and infection-induced benign and malignant tumors. In addition to this, however, MonoMAC-afflicted individuals often show one or more signs and symptoms of other GATA2 presentations. MonoMAC was first described by Vihn and colleagues in 2010 as an autosomal dominant familial disease. One year later, Dickinson and colleagues discovered that the MonoMAC disorder in four individuals was associated with any one of four different mutations in the GATA2 gene. Subsequent studies identified numerous other GATA2 gene mutations that are associated with the development of MonoMAC, showed that these mutations inactivated or were considered likely to inactivate one of two parental GATA2 genes, and found that essentially all individuals with MonoMAC had one of the mutations known or considered to inactivate GATA2. Medical condition
Yunnan Baiyao is a proprietary traditional Chinese medicine marketed and used as a hemostatic product in both human and veterinary alternative medicine. Although Yunnan Baiyao has long been recognized as a pharmaceutical preparation in China, the safety and efficacy of Yunnan Baiyao has not been assessed or established by the FDA, the European Medicines Agency, or the Australian Therapeutic Goods Administration. There is limited evidence regarding its effectiveness in preventing and treating hemorrhagic and pathological conditions in both humans and animals via oral administration. In a limited number of human studies of small sample sizes, administration of Yunnan Baiyao has been shown to correlate with "reduced perioperative bleeding as well as bleeding in various ulcerative–hemorrhagic conditions". It has become popular particularly for animals with hemangiosarcoma. There are multiple routes of drug administration. Yunnan Baiyao is sold in powder, tincture, plaster, paste, aerosol, or tablet form. The medicine, developed by Qu Huangzhang in 1902, is designated as one of two Class-1 protected traditional Chinese medicines, which gives it 20 years of trade protection in China. Yunnan Baiyao products are manufactured and distributed by a state-owned enterprise, Yunnan Baiyao Group in Yunnan, China. Proprietary traditional Chinese medicine
2q37 monosomy is a rare genetic disorder caused by a deletion of a segment at the end of chromosome 2. Medical condition
Leucosis is a leukemia-like malignant viral disease that is found in animals, particularly poultry and cattle. Viral disease of animals
Sickle cell retinopathy can be defined as retinal changes due to blood vessel damage in the eye of a person with a background of sickle cell disease. It can likely progress to loss of vision in late stages due to vitreous hemorrhage or retinal detachment. Sickle cell disease is a structural red blood cell disorder leading to consequences in multiple systems. It is characterized by chronic red blood cell destruction, vascular injury, and tissue ischemia causing damage to the brain, eyes, heart, lungs, kidneys, spleen, and musculoskeletal system. People affected by sickle cell disease are commonly of African or Asian descent. Emigration patterns towards the Western Hemisphere have led to increased numbers of persons affected by sickle cell disease in regions where it was previously uncommon. Knowledge and understanding of sickle cell disease and its management are now increasingly relevant in areas such as the European Union. At a young age, a great proportion of people living with sickle cell disease can develop retinal changes. Sickle cell disease consists of several subtypes; however, the Haemoglobin type C (HbSC) subtype carries the gravest prognosis for sickle cell retinopathy and vision changes. Regular retinal examinations can aid in early detection and treatment, thus reducing the impact of the condition and the risk of vision loss. Development and progression of sickle cell retinopathy can be favorably modified through management of the underling sickle cell disease. Treatment of the general disease can ameliorate its systemic effects. Medical condition
Transmissible mink encephalopathy (TME) is a rare sporadic disease that affects the central nervous system of ranch-raised adult mink. It is a transmissible spongiform encephalopathy, caused by proteins called prions. Prion disease of mink
Sergliflozin etabonate is an investigational anti-diabetic drug being developed by GlaxoSmithKline. It did not undergo further development after phase II. Chemical compound
Sneddon's syndrome is a form of arteriopathy characterized by several symptoms, including: Severe, transient neurological symptoms or stroke Livedo reticularis, or livedo racemosa Medical condition
Odontoma dysphagia syndrome is a rare syndrome first described in 1967. The cause is not known but it is suspected to be genetic in origin. Medical condition
Serine dehydratase or L-serine ammonia lyase (SDH) is in the β-family of pyridoxal phosphate-dependent (PLP) enzymes. SDH is found widely in nature, but its structure and properties vary among species. SDH is found in yeast, bacteria, and the cytoplasm of mammalian hepatocytes. SDH catalyzes the deamination of L-serine to yield pyruvate, with the release of ammonia. This enzyme has one substrate, L-serine, and two products, pyruvate and NH3, and uses one cofactor, pyridoxal phosphate (PLP). The enzyme's main role is in gluconeogenesis in the liver's cytoplasm.
Spondweni fever is an infectious disease caused by the Spondweni virus. It is characterized by a fever, chills, nausea, headaches, malaise and epistaxis. Transmitted by mosquitoes, it is found in sub-Saharan Africa and Papua New Guinea. Medical condition
Omasitis is an inflammation of the omasum, the third compartment of the stomach in ruminants. It usually accompanies rumenitis, and is often caused by infection with Fusobacterium necrophorum.
Openvape is a manufacturer and distributer of personal vaporizer devices which make use of herbal extract oil-filled cartridges. Founded in 2012, the company is headquarter in Denver, Colorado, and sells products at many retail locations across a distribution network of licensed affiliates in the United States, Jamaica, Czech Republic, France, Netherlands, United Kingdom, Canada, Poland, Ireland, Scotland and South Africa. O.penVAPE licenses its intellectual property to eleven distribution partners in ten states and Jamaica. Licensees employ O.penVAPE's Organa Labs technology and proprietary processes to manufacture cannabis oil using supercritical CO2 extraction. Personal vaporizer device manufacturer
An odontogenic tumor is a neoplasm of the cells or tissues that initiate odontogenic processes. Examples include: Adenomatoid odontogenic tumor Ameloblastic fibroma Ameloblastic fibro-odontoma Ameloblastoma, a type of odontogenic tumor involving ameloblasts Ameloblastic fibrosarcoma Calcifying cystic odontogenic tumor Calcifying epithelial odontogenic tumor Cementoblastoma Cementoma Odontogenic keratocyst Odontogenic carcinoma Odontogenic myxoma Odontoma Squamous odontogenic tumour Any of the forms of odontogenic neoplasm
TKM-Ebola was an experimental antiviral drug for Ebola disease that was developed by Arbutus Biopharma in Vancouver, Canada. The drug candidate was formerly known as Ebola-SNALP. TKM-Ebola is a combination of small interfering RNAs targeting three of the seven proteins in Ebola virus: Zaire Ebola L polymerase, Zaire Ebola membrane-associated protein (VP24), and Zaire Ebola polymerase complex protein (VP35). By down-regulating these three proteins, TKM-Ebola inhibits virus replication and eliminates the infection. The drug was effective in rhesus monkeys infected with Ebola. After the Ebola outbreak in West Africa in 2014, the new variant responsible for it was isolated from several Ebola virus families and the specific genomic sequence was determined. The company re-designed TKM-Ebola and renamed it as "TKM-Ebola-Guinea". In January 2014, Tekmira started a Phase I clinical trial of TKM-Ebola to assess its safety in healthy people with a dose of 0.24 mg/kg/day for seven day treatments. The FDA placed the trial on clinical hold in July 2014 to assess results, after some subjects had flu-like responses. In August, the FDA changed the status to "partial hold", allowing the drug to be used under expanded access in people infected with Ebola but with the Phase I trial still suspended. In April 2015 the FDA allowed the study to resume at a lower dose. A Phase II trial started on 11 March 2015 in Sierra Leone, West Africa and stopped enrolling new subjects on 19 June 2015 after it appeared not to work. In July 2015 the company announced it was changing its name to Arbutus, suspending development of the drug for Ebola and changing its focus to developing treatments for hepatitis B virus. Experimental antiviral drug for Ebola disease that failed
Smith–Fineman–Myers syndrome (SFMS1) is a congenital disorder that causes birth defects. This syndrome was named after Richard D. Smith, Robert M. Fineman and Gart G. Myers who discovered it around 1980. Medical condition
Kirner's deformity, also known as dystelephangy, is an uncommon genetic hand malformation which is characterized by a radial and volar curvature of the distal phalange of the fifth (pinky) finger. It is merely cosmetic and doesn't affect hand function. Medical condition
Twelfth rib syndrome, also known as rib tip syndrome, is a painful condition that occurs as a result of highly mobile floating ribs. It commonly presents as pain that may be felt in the lower back or lower abdominal region as a result of the 11th or 12th mobile rib irritating the surrounding tissues and nervous systems. Diagnosis is often made by a physical examination after other conditions are ruled out. The condition is often labelled as slipping rib syndrome due to the unclear definitions of the conditions, with twelfth rib syndrome sometimes being referred to as a subtype of slipping rib syndrome. Medical condition caused by mobile floating ribs
X-linked lymphoproliferative disease is a lymphoproliferative disorder, usually caused by SH2DIA gene mutations in males. XLP-positive individuals experience immune system deficiencies that render them unable to effectively respond to the Epstein-Barr virus (EBV), a common virus in humans that typically induces mild symptoms or infectious mononucleosis (IM) in patients. There are two currently known variations of the disorder, known as XLP1 and XLP2. XLP1 is estimated to occur in approximately one in every million males, while XLP2 is rarer, estimated to occur in one of every five million males. Due to therapies such as chemotherapy and stem cell transplants, the survival rate of XLP1 has increased dramatically since its discovery in the 1970s. Medical condition
Neuromyotonia (NMT) is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin. NMT along with Morvan's syndrome are the most severe types in the Peripheral Nerve Hyperexciteability spectrum. Example of two more common and less severe syndromes in the spectrum are cramp fasciculation syndrome and benign fasciculation syndrome. NMT can have both hereditary and acquired (non-inherited) forms. The prevalence of NMT is unknown. Medical condition
Hyperplasia of midface is a condition in which the infraorbital and perialar regions are anteriorally positioned, facial convexity is increased, and/or the nasolabial angle is increased. Medical condition
Juxtaglomerular cell tumor is an extremely rare kidney tumour of the juxtaglomerular cells, with fewer than 100 cases reported in literature. This tumor typically secretes renin, hence the former name of reninoma. It often causes severe hypertension that is difficult to control, in adults and children, although among causes of secondary hypertension it is rare. It develops most commonly in young adults, but can be diagnosed much later in life. It is generally considered benign, but its malignant potential is uncertain. Medical condition