DiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and Equipment
CREST SyndromeTelangiectasisSyndromeRaynaud DiseaseScleroderma, LocalizedArteritisScleroderma, SystemicLiver Cirrhosis, BiliarySurgical InstrumentsAutoantibodiesScleroderma, DiffuseLymphangioleiomyomatosisMultiple SclerosisScleroderma, LimitedHistiocytosis, Langerhans-Cell
SclerodermaRaynaudNeural CrestEsophageal dysmotilityIliac crestEpidemiologyAorticTumorsAcute CoronaryDisordersInvolveSymptomsZebrafishAbnormalComplicationsBilateralDefectsSudden infant dGastrointestinalMetabolicNeckAffectsAnatomyDevelopmentalPatientsSevereChromosomalClinicalNerveChronicVascularTypicallyCellTreatmentIncludesKneeDiseaseCommonGroup
Scleroderma4
  • Because it was designed for research applications and not for clinical diagnosis, it has been criticized for its low sensitivity in identifying early disease and milder forms of systemic scleroderma such as CREST syndrome. (medscape.com)
  • Several authors recognized this limitation and responded by categorizing patients with scleroderma syndromes into 2 groups: those with diffuse cutaneous scleroderma and those with a limited form of scleroderma. (medscape.com)
  • Limited scleroderma, sometimes referred to as CREST syndrome, affects the face, hands and feet. (uwhealth.org)
  • Healthcare providers usually refer to limited scleroderma with the acronym CREST syndrome. (clevelandclinic.org)
Raynaud6
  • CREST syndrome (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias-although not all are needed for the disorder to be called CREST) is an older term used to describe this subset of limited cutaneous systemic sclerosis. (medscape.com)
  • CREST ( calcinosis , Raynaud phenomenon , esophageal dysmotility , sclerodactyly, and telangiectasia) syndrome is a member of the heterogeneous group of sclerodermas , and its name is an acronym for the cardinal clinical features of the syndrome. (medscape.com)
  • In 1910, Thibierge and Weissenbach described the first case report of what was later called CRST (calcinosis cutis, Raynaud phenomenon, sclerodactyly, and telangiectasia) syndrome in English by Winterbauer who, in 1964, described a series of 8 patients with the features that make up the abbreviation CRST. (medscape.com)
  • Common symptoms include Raynaud syndrome, polyarthralgia, dysphagia, heartburn, and swelling and eventually skin tightening and contractures of the fingers. (msdmanuals.com)
  • In generalized systemic sclerosis with diffuse skin involvement, patients have Raynaud syndrome and gastrointestinal (GI) complications. (msdmanuals.com)
  • Vascular ectasias also occur in association with a number of systemic diseases (eg, renal failure, aortic stenosis, cirrhosis, CREST syndrome [calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias]) and after radiation to the bowel. (merckmanuals.com)
Neural Crest20
  • Her Zebrafish study integrates concerns from other disciplines, such as Paraxial mesoderm, Chromatophore, Cell type and Neural crest. (research.com)
  • Her work deals with themes such as Mutant, Pattern formation, Anatomy, Neural crest and Cell type, which intersect with Zebrafish. (research.com)
  • Neural crest forms four major categories of derivatives: pigment cells, peripheral neurons, peripheral glia, and ectomesenchymal cells. (bath.ac.uk)
  • Some early neural crest cells generate progeny of several fates. (bath.ac.uk)
  • These observations suggest that colourless has a key role in development of non-ectomesenchymal neural crest fates, but not in development of ectomesenchymal fates. (bath.ac.uk)
  • Thus, the cls mutant phenotype reveals a segregation of ectomesenchymal and non-ectomesenchymal fates during zebrafish neural crest development. (bath.ac.uk)
  • Kelsh, RN & Eisen, JS 2000, ' The zebrafish colourless gene regulates development of non-ectomesenchymal neural crest derivatives ', Development , vol. 127, no. 3, pp. 515-525. (bath.ac.uk)
  • A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. (harvard.edu)
  • Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome, PIK3CA mutation in malformative/overgrowth syndromes such as the Klippel-Trenaunay syndrome, and the twin-spotting phenomenon in phakomatosis pigmentovascularis. (hindawi.com)
  • The cells that go awry in HSCR are a subset of what are called neural crest cells, embryonic cells that spring from the developing brain and spinal cord in mice or humans and then travel long distances to form, among others, structures in the face and heart, smooth muscle, and neurons of the peripheral nervous system, including those that innervate the gut. (stowers.org)
  • Trainor has been interested in neural crest cells since he was a graduate student, often focusing on developmental defects caused by their malfunction. (stowers.org)
  • Neural crest cells have to be born in the right place, migrate an incredibly long distance, survive the migration, multiply and then differentiate into a mature cell type," says Trainor, who until recently was primarily interested in neural crest-related craniofacial anomalies. (stowers.org)
  • Both Human Molecular Genetics papers employ imaging techniques to visualize and track neural crest migration in mice mutant in HSCR candidate genes. (stowers.org)
  • The earlier study, published in January of 2012, reported that mice missing one of their two copies of a gene called Tcof1 not only produced fewer neural crest cells but that colonization of the gut by the remaining cells proceeded slowly compared to normal mice. (stowers.org)
  • That paper showed that neural crest cells don't seem to have a defined time window to colonize the entire gut as long as they do it by birth," says Trainor, suggesting that for humans this is a good thing in terms of potential intervention. (stowers.org)
  • In the latter, the researchers eliminated one copy of Tcof1 along with one copy of another gene known to govern neural crest formation and proliferation, Pax3 . (stowers.org)
  • Double mutant mice showed serious defects: fewer neural crest cells migrated out of the embryonic spinal cord, and the ones that remained underwent increased cell death as they traveled toward the gut. (stowers.org)
  • Pheochromocytomas (PHEOs) are rare catecholamine-secreting neuroendocrine tumors of neural crest origin arising from chromaffin cells in the adrenal medulla with estimated incidence of 0.46 to 0.8 cases per 100,000 person-years. (scholarena.co)
  • It is caused by defective proximal to distal migration of neural crest cells from the caecum to rectum during embryogenesis, which leads to development of a distal bowel segment lacking both a myenteric and submucosal plexus. (stivmed.hr)
  • Mutations in the receptor tyrosine kinase RET, which is necessary for neural crest cell migration, account for a majority of the familiar cases and 15% of the sporadic cases. (stivmed.hr)
Esophageal dysmotility2
  • [ 2 , 3 ] Although he noted esophageal dysmotility in 4 of 8 patients, he did not include this feature in his original description of CRST syndrome. (medscape.com)
  • [ 4 ] noted the frequent occurrence of esophageal dysmotility and suggested that the acronym CREST may be more appropriate. (medscape.com)
Iliac crest2
  • Trescot[] stated that cluneal neuralgia is more commonly the result of an entrapped nerve rather than a nerve injury resulting from iliac crest bone harvest. (laura-equilibre.fr)
  • No ribs or iliac crest grafts have to be harvested from the patient. (medscape.com)
Epidemiology1
  • See "DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis" and "DiGeorge (22q11.2 deletion) syndrome: Management and prognosis" . (medilib.ir)
Aortic1
  • Actively participating in another drug or aortic arch or cerebrovascular device trial for which participation in CREST-2 would be compromised with regard to follow-up assessment of outcomes or continuation in CREST-2. (mayo.edu)
Tumors1
  • Noncancerous tumors that can cause Cushing syndrome include: Adrenal adenomas, a common tumor that rarely makes excess cortisol. (jacanswers.com)
Acute Coronary3
  • Intensive glucose control with insulin in patients with an acute coronary syndrome reduces platelet reactivity during hospitalization, compared to conventional control. (revespcardiol.org)
  • 180 mg/dL), on platelet reactivity after hospital discharge in patients with an acute coronary syndrome and hyperglycemia. (revespcardiol.org)
  • Any major surgery, major trauma, revascularization procedure, or acute coronary syndrome within the past 1 month. (mayo.edu)
Disorders2
  • Due to space limitations, disorders limited to infancy, such as apnea of prematurity, apparent life-threatening events, and sudden infant death syndrome, will not be discussed. (atsjournals.org)
  • It is more common in males, those with siblings with Hirschsprung’s disease and those with other developmental disorders, such as Down Syndrome. (stivmed.hr)
Involve1
  • Several distinct congenital or acquired syndromes involve abnormal mucosal or submucosal blood vessels in the gastrointestinal tract. (merckmanuals.com)
Symptoms2
  • You may have any CREST syndrome symptoms but not experience any thickened skin. (clevelandclinic.org)
  • INTRODUCTION - DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. (medilib.ir)
Zebrafish1
  • Here we show that zebrafish embryos with mutations in the colourless gene have severe defects in most crest-derived cell types, including pigment cells, neurons and specific glia. (bath.ac.uk)
Abnormal1
  • Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. (jacanswers.com)
Complications1
  • For each case, it includes an overview of the most common clinical presentation, physical exam findings, diagnostic tools, complications, treatment, and a discussion of any controversial issues that may surround the case. (nshealth.ca)
Bilateral1
  • 2] Genetic syndromes can pre- dispose to bilateral PHEO, such as multiple endocrine neoplasia (MEN) 2A, MEN 2B, von Hippel-Lindau (VHL), neurofi- bromatosis type 1 (NF1), as well as mutations in the genes of myc-associated factor X (MAX), transmembrane protein 127 (TMEM127), and mutations in the subunits of the succinate dehydrogenase complex (SDHx). (scholarena.co)
Defects1
  • The combination of pigmentation and enteric nervous system defects makes colourless mutations a model for two human neurocristopathies, Waardenburg-Shah syndrome and Hirschsprung's disease. (bath.ac.uk)
Sudden infant d1
  • Secondhand smoke (SHS) has been linked causally with sudden infant death syndrome (SIDS) in major health reports. (who.int)
Gastrointestinal1
  • Overview of Gastrointestinal Bleeding Gastrointestinal (GI) bleeding can originate anywhere from the mouth to the anus and can be overt or occult. (merckmanuals.com)
Metabolic1
  • Recent studies suggest an association between vitamin D status, metabolic syndrome, insulin resistance, and obesity among Canadians (12,13). (cdc.gov)
Neck1
Affects1
Anatomy1
  • The description above only offers a superficial overview of the anatomy of the eyelid. (eyelidsbybrown.com)
Developmental1
  • This extra genetic material causes the developmental changes and physical features of Down syndrome. (jacanswers.com)
Patients3
  • [ 5 ] reviewed 13 patients with CREST and CRST syndromes and found the syndromes equivalent. (medscape.com)
  • Physical therapist Kevin Muldowney gives an excellent overview of physical therapy protocols in patients with Ehlers-Danlos syndrome and hypermobility. (bobbyjonescsf.org)
  • Carotid revascularization for primary prevention of stroke (CREST-2) is two independent multicenter, randomized controlled trials of carotid revascularization and intensive medical management versus medical management alone in patients with asymptomatic high-grade carotid stenosis. (mayo.edu)
Severe1
  • There's no cure for Duane syndrome, but surgery can be used to try to improve or eliminate issues with head turns, reduce or completely remove considerable misalignment of the eyes, reduce severe retraction of the eyeball, and improve the tendency of the eye to deviate upward or downward with particular eye movements. (jacanswers.com)
Chromosomal1
Clinical1
  • The ophthalmologist van der Hoeve was the first to describe the phakomatoses as a clinical entity of diseases including tuberous sclerosis, neurofibromatosis, and von Hippel-Lindau and Sturge-Weber syndromes [ 11 ]. (hindawi.com)
Nerve1
  • This can happen due to any bleeding at the surgical site, which leads to hematoma formation and compression of the nerve roots causing the presentation of cauda equina syndrome. (jacanswers.com)
Chronic1
  • In addition, this approach has been used to treat fibromyalgia, tension headaches, and myofascial pain syndrome (chronic pain involving tissue that surrounds muscle) that does not respond to other treatment. (webmd.com)
Vascular1
  • Rendu-Osler-Weber syndrome) is an autosomal dominant disorder that causes multiple vascular lesions in various parts of the body, including the entire GI tract. (merckmanuals.com)
Typically1
  • A so-called "Down syndrome cat" typically manifests some distinctive characteristics, including: Broad noses. (jacanswers.com)
Cell1
Treatment1
  • A vertical, expandable prosthetic titanium rib is a safe tool for the treatment of children with thoracic insufficiency syndrome. (medscape.com)
Includes1
  • Chromosome 22q11.2 deletion syndrome (22qDS) includes DGS and other similar syndromes, such as velocardiofacial syndrome. (medilib.ir)
Knee1
Disease1
Common2
Group1
  • Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions? (hindawi.com)