• distal
  • Our results suggest that an epigenetic mechanism perturbing the expression of genes close to the telomeric regions, rather than deletion of genes located at the distal 20p and/or 20q regions, may underlie the manifestation of r(20) syndrome. (biomedcentral.com)
  • inflammatory
  • To provide an overview of the spectrum of diseases known as 'idiopathic orbital inflammatory syndrome' also known as orbital pseudotumor, with emphasis on specific diagnostic challenges in the evaluation and management of patients with this disorder. (meajo.org)
  • Together, these mediators cause bronchial smooth muscle constriction, vascular leakage, inflammatory cell recruitment (with further mediator release), and mucous gland secretion. (wikipedia.org)
  • These processes lead to airway obstruction by constriction of the smooth muscles, edema of the airways, influx of inflammatory cells, and formation of intraluminal mucus. (wikipedia.org)
  • cause
  • There are three different theories to the cause of the constriction ring syndrome. (wikipedia.org)
  • The cause of the ring constrictions is unknown. (nationwidechildrens.org)
  • Acid reflux can cause an esophageal constriction called a stricture or ring that can result in a food sticking sensation, but this is usually associated with heartburn symptoms or food getting stuck which then prompts an upper endoscopy or scope exam. (freediettips.info)
  • Mutations in the GDF6 and GDF3 genes have also been identified to cause the disease, although some people with Klippel-Feil syndrome do not have identified mutations in the GDF6 or GDF3 genes. (wikipedia.org)
  • Mutations cause reductions in these functional proteins but, it is unclear exactly how a shortage in these proteins leads to incomplete separation of the vertebrae in people with Klippel-Feil syndrome. (wikipedia.org)
  • Only by identifying the link between the genetic cause and the phenotypic pathoanatomy of Klippel-Feil syndrome will we be able to rationalize the heterogeneity of the syndrome. (wikipedia.org)
  • Certain drugs cause constriction of the pupils, such as opioids. (wikipedia.org)
  • known
  • Oral allergy syndrome (OAS) is a well-recognized but little known condition. (freediettips.info)
  • It is also known as Segmentation syndrome 1. (wikipedia.org)
  • Roberts syndrome is also known by many other names, including: hypomelia-hypotrichosis-facial hemangioma syndrome, SC syndrome (once thought to be an entirely separate disease), pseudothalidomide syndrome, Roberts-SC phocomelia syndrome, SC phocomelia syndrome, Appelt-Gerken-Lenz syndrome, RBS, SC pseudothalidomide syndrome, and tetraphocomelia-cleft palate syndrome. (wikipedia.org)
  • Named after the famous Philadelphia surgeon and physician, Dr. John Bingham Roberts (1852-1924), who first described the syndrome in 1919, it is one of the rarest autosomal recessive disorders, affecting approximately 150 known individuals. (wikipedia.org)
  • occur
  • Many of the physical malformations associated with Roberts syndrome are very similar to the malformations that occur in children whose mothers took thalidomide during pregnancy. (wikipedia.org)
  • contraction
  • Cannon's ring a focal contraction seen radiographically at the mid-third of the transverse colon, marking an area of overlap between the superior and inferior nerve plexuses. (thefreedictionary.com)
  • gene
  • The pathogenesis of moyamoya disease is unknown, although the gene ring finger protein 213 (RNF213) has been implicated. (wikipedia.org)
  • The syndrome is both autosomal, in that there are equal numbers of copies of the gene in both males and females, and recessive, meaning the child must inherit the defective gene from both parents. (wikipedia.org)
  • Also, all individuals that have been cytogenetically diagnosed with Roberts syndrome have also had mutations in the ESCO2 gene. (wikipedia.org)
  • In order to contract Roberts syndrome, a child must inherit the defective gene in an autosomal recessive manner. (wikipedia.org)
  • The ESCO2 gene has a specific effect on cell division in Roberts syndrome patients. (wikipedia.org)
  • The discovery of ESCO2 as the gene responsible for Roberts syndrome was made by studying samples from fifteen families affected by Roberts syndrome. (wikipedia.org)
  • Using this information, Vega and Gordillo were able to pinpoint the gene responsible for Roberts syndrome, which was ESCO2. (wikipedia.org)
  • 1919
  • In 1919, in his PhD thesis, André Feil suggested another classification of the syndrome encompassing not only deformation of the cervical spine but also deformation of the lumbar and thoracic spine. (wikipedia.org)
  • mutations
  • Resistance to the drug class is a consequence of mutations to the pore-lining residues of the channel, leading to the inability of the sterically bulky adamantane ring that both amantadine and rimantadine share, in entering in their usual way, into the channel. (wikipedia.org)
  • patients
  • Rare cases of severe skin rashes, such as Stevens-Johnson syndrome, and of suicidal ideation have also been reported in patients treated with amantadine. (wikipedia.org)
  • Patients with Down syndrome, sickle cell anemia, neurofibromatosis type 1, congenital heart disease, fibromuscular dysplasia, activated protein C resistance, or head trauma can develop moyamoya malformations. (wikipedia.org)
  • Vega and Gordillo noticed an unusually high number of Roberts syndrome patients at the Universidad Nacional de Colombia. (wikipedia.org)
  • consists
  • Centromeres are conventionally defined by dark-staining heterochromatin which consists of the primary constriction site-this convention exists because heterochromatin is usually found flanking the centromere. (wikipedia.org)
  • arteries
  • citation needed] The disease causes constrictions primarily in the internal carotid artery, and often extends to the middle and anterior cerebral arteries, branches of the internal carotid artery inside the skull. (wikipedia.org)
  • Carotid artery stenosis is a narrowing or constriction of any part of the carotid arteries, usually caused by atherosclerosis. (wikipedia.org)
  • rare
  • This is a very rare situation, in which the extra digit is on the ring, middle or index finger. (wikipedia.org)
  • Klippel-Feil syndrome is a rare disease, initially reported in 1884 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any two of the seven cervical vertebrae. (wikipedia.org)
  • loss
  • After 5-15 years, the episodes of world spinning generally stop and the person is left with mild loss of balance, moderately poor hearing in the affected ear, and ringing in their ear. (wikipedia.org)