AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation ScienceNamed GroupsHealth Care
SyndromeCarotid StenosisAortic Valve StenosisCoronary StenosisSpinal StenosisTracheal StenosisPyloric StenosisMitral Valve StenosisConstriction, PathologicPulmonary Valve StenosisDown SyndromeMetabolic Syndrome XRenal Artery ObstructionAortic Stenosis, SupravalvularAortic Stenosis, SubvalvularNephrotic SyndromeCoronary AngiographyStentsTreatment OutcomeSjogren's SyndromeCarotid Artery, InternalEndarterectomy, CarotidAngioplasty, BalloonUltrasonography, Doppler, DuplexFollow-Up StudiesAortic ValveLaryngostenosisSeverity of Illness IndexTricuspid Valve StenosisWilliams SyndromeAbnormalities, MultipleDiscrete Subaortic StenosisProspective StudiesMagnetic Resonance AngiographyTurner SyndromeAngiographyRetrospective StudiesArterial Occlusive DiseasesRisk FactorsTomography, X-Ray ComputedBlood Flow VelocityPyloric Stenosis, HypertrophicAcute Coronary SyndromeCatheterizationMyelodysplastic SyndromesHeart Valve Prosthesis ImplantationAngiography, Digital SubtractionEsophageal StenosisCushing SyndromeCoronary DiseasePredictive Value of TestsSensitivity and SpecificityTime FactorsCardiac CatheterizationIntracranial ArteriosclerosisAngioplastyPolycystic Ovary SyndromeRecurrenceGraft Occlusion, VascularCoronary CirculationEchocardiographyHemodynamicsCoronary VesselsDiGeorge SyndromeHorner SyndromeVertebrobasilar InsufficiencyPrader-Willi SyndromeCarotid Artery DiseasesPostoperative ComplicationsLong QT SyndromeCalcinosisCerebral AngiographyFractional Flow Reserve, MyocardialSubclavian Steal SyndromeCarotid ArteriesGuillain-Barre SyndromeHemolytic-Uremic SyndromeVascular PatencyCoronary Artery DiseaseAntiphospholipid SyndromeHeart Valve ProsthesisCompartment SyndromesTourette SyndromeMagnetic Resonance ImagingUltrasonography, Doppler, ColorHypertension, RenovascularPorcine Reproductive and Respiratory SyndromeDecompression, SurgicalIschemic Attack, TransientArteriovenous Shunt, SurgicalCerebrovascular DisordersKlinefelter SyndromeRenal ArteryCarpal Tunnel SyndromeInfant, NewbornWerner SyndromeReye SyndromeStrokeBartter SyndromeRisk Assessment
Supravalvular aortic sValvular stenosisArterialMitralPyloric StenosisThoracicOccursFaciesShort statureHypoplastic Left HeaTetralogy of FalAcuteVentricular septalPeripheralSevereSprainsScoliosisAortic valveCervical spineVenousNoonanLumbarCarotidEchocardiographySpine surgeryAbnormalitiesComplicationsMedullarySymptomsDegenerativeDiagnosisAtherosclerosisDiseaseCaudaAnomaliesCongenital rubellaSanjad SakatiProgressesMetabolicCharacteristicDiagnosePatientsDisorderDevelopmentalValve
Supravalvular aortic s10
  • Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium. (bmj.com)
  • The incidence of cytoplasmic metachromasia has been studied in cultures of skin fibroblasts derived from 6 cases of the syndrome of supravalvular aortic stenosis, characteristic facies, and mental retardation which in many instances represents the late normocalcaemic stage of the severe form of infantile hypercalcaemia. (bmj.com)
  • Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. (medscape.com)
  • Supravalvular aortic stenosis. (medscape.com)
  • Surgical management of congenital obstruction of the left main coronary artery with supravalvular aortic stenosis. (medscape.com)
  • An explanation of asymmetric upper extremity blood pressures in supravalvular aortic stenosis: the Coanda effect. (medscape.com)
  • Surgical repair of congenital supravalvular aortic stenosis in children. (medscape.com)
  • Akkaya G, Bilen C, Tuncer ON, Atay Y. Requirement for repetitive surgical approaches at supravalvular aortic stenosis. (medscape.com)
  • Wren C, Oslizlok P, Bull C. Natural history of supravalvular aortic stenosis and pulmonary artery stenosis. (medscape.com)
  • Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome. (medscape.com)
Valvular stenosis3
  • We report a case of 13 year old male child presented to us with features of short stature, dysmorphic facies and severe pulmonary valvular stenosis without any family history of similar illness. (ijmsdr.com)
  • Noonan Syndrome, Pulmonary valvular stenosis. (ijmsdr.com)
  • Most often, valvular stenosis or insufficiency. (msdmanuals.com)
Arterial1
  • Common procedures performed include carotid endarterectomy, angioplasty and stenting, amputation prevention, dialysis access creation and maintenance, endovascular stenting, laser therapy, endovascular and surgical treatment of arterial occlusions, and median arcuate limb syndrome. (24-7pressrelease.com)
Mitral14
  • Mitral stenosis is characterized by restriction of blood flow from the left atrium (LA) to the left ventricle (LV) as a result of a narrowed mitral passage. (medscape.com)
  • It is an acquired valvular defect and is usually a consequence of rheumatic heart disease, although cases of congenital mitral stenosis have been encountered. (medscape.com)
  • Extensive mitral annular calcification (MAC) may result in mitral stenosis, particularly in the aged. (medscape.com)
  • Mitral stenosis is seen more often in women than in men, and it generally develops at an earlier age in developing countries than in Western societies. (medscape.com)
  • See the images of mitral stenosis below. (medscape.com)
  • Mitral stenosis as demonstrated with 2-dimensional (2D) echocardiography. (medscape.com)
  • Rheumatic mitral stenosis with commissural fusion and enlarged left atrium. (medscape.com)
  • Patients with mitral stenosis usually remain symptom-free for years. (medscape.com)
  • Multiple imaging modalities may be used to diagnose mitral stenosis. (medscape.com)
  • Echocardiography has become the most important diagnostic tool for confirming the diagnosis, for quantifying the severity of mitral stenosis, and for determining the optimal timing for intervention. (medscape.com)
  • These surgical options, which include valvuloplasty and mitral valve replacement, have changed the natural history of mitral stenosis, and terminally bedridden patients with mitral facies, cardiac cachexia, and end-stage congestive heart failure (CHF) are no longer encountered in everyday clinical practice. (medscape.com)
  • Nonetheless, mitral stenosis is still endemic, and it continues to be a substantial problem in many countries. (medscape.com)
  • Doppler studies are also helpful in quantifying the severity of mitral stenosis. (medscape.com)
  • Mitral valve stenosis and regurgitation 20. (muni.cz)
Pyloric Stenosis2
Thoracic2
  • This article highlights the specific symptoms, causes, and treatments of central canal stenosis in the neck (cervical), upper back (thoracic), and lower back (lumbar) regions. (spine-health.com)
  • Central stenosis of the thoracic and lumbar spine mostly affects the lower back, buttocks, thighs, and legs, causing pain and/or numbness. (spine-health.com)
Occurs7
  • As symptoms worsen and pulmonary hypertension occurs, mechanical correction of the stenosis, rather than medical therapy, becomes necessary. (medscape.com)
  • Spinal stenosis occurs mostly in people older than 50. (medlineplus.gov)
  • When spinal stenosis occurs in the spinal canal, it is called central canal stenosis and may cause compression of the spinal cord. (spine-health.com)
  • Fetal aortic stenosis is a disorder that occurs when the fetus' aortic valve does not fully open during development. (wikipedia.org)
  • Turner syndrome, one of the most common chromosomal abnormalities, occurs when there is a complete or partial absence of one sex chromosome in a female. (gponline.com)
  • Scoliosis occurs in around 10% of adolescent girls with Turner syndrome and may contribute to short stature. (gponline.com)
  • Neonatal abstinence syndrome (NAS) occurs when a baby is exposed to drugs in the womb. (familydoctor.org)
Facies1
  • Peters' plus syndrome has to be considered but additional abnormalities not described in this syndrome and their apparently different facies may be evidence for a hitherto undescribed condition. (nih.gov)
Short stature3
  • Two unrelated children with developmental delay, anterior chamber-cleavage disorder, proportionate short stature and striking similarity in facial appearance appear to have an identical syndrome. (nih.gov)
  • The most common physical signs of Turner syndrome are short stature, oedema of the hands and feet, and redundant nuchal skin. (gponline.com)
  • Moynahan first documented the association of the syndrome with cardiac abnormalities and short stature in 1962. (medscape.com)
Hypoplastic Left Hea4
Tetralogy of Fal1
  • Tetralogy of Fallot (TOF) with pulmonary stenosis is the common form of tetralogy of Fallot, and it is the focus of this article. (medscape.com)
Acute9
Ventricular septal1
  • Bacterial endocarditis in patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect. (medscape.com)
Peripheral1
  • Cataracts/congenital glaucoma, congenital heart disease (most commonly patent ductus arteriosus or peripheral pulmonary artery stenosis), hearing impairment, pigmentary retinopathy. (cdc.gov)
Severe5
  • We report a case of Noonan syndrome with giant coronary aneurysms.Case Report:A young woman with the phenotypic characteristics of Noonan's syndrome presented with severe pulmonary stenosis and giant coronary aneurysms. (medscimonit.com)
  • Changes in movement-coordination and paralysis may occur in severe central canal stenosis. (spine-health.com)
  • Once born, critical or severe aortic stenosis is often treated through a less invasive catherization procedure knows as aortic valvuloplasty. (wikipedia.org)
  • Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams-Beuren syndrome. (medscape.com)
  • Information was extracted Phenotypic features from the medical records and personal All the patients had severe failure to Sanjad Sakati syndrome or hypopar- interview. (who.int)
Sprains1
  • Hand and wrist conditions including arthritis, carpal tunnel syndrome, Dupuytren's contracture, and fractures or sprains, with treatment options such as surgery or physical therapy. (healthgrades.com)
Scoliosis1
Aortic valve6
Cervical spine2
  • Central stenosis of the cervical spine may cause neck, shoulder, and/or arm pain. (spine-health.com)
  • The lumbar spine is most commonly affected by stenosis, followed by the cervical spine, which, however, progresses faster. (spine-health.com)
Venous2
  • How does venous obstruction (jugular vein stenosis) occur in a neck? (caringmedical.com)
  • Dr. Abramowitz is the only physician at MedStar Washington Hospital Center performing endovascular iliocaval reconstruction, a two-stage minimally invasive reconstructive technique that has been paramount in the treatment of patients diagnosed with vena caval stenosis and central venous occlusive disease. (medstarhealth.org)
Noonan9
  • Background:Noonan syndrome is a rare disease, mainly presenting with malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. (medscimonit.com)
  • Noonan syndrome [NS] is an autosomal dominant inherited condition that can be passed down through families. (ijmsdr.com)
  • LEOPARD syndrome, also known as Noonan syndrome with multiple lentigines, is a rare autosomal dominant disorder most often caused by missense mutations in the PTPN11 gene, which encodes the protein tyrosine phosphatase SHP2. (medscape.com)
  • The term RASopathies includes disorders with mutations in the genes that code for the proteins of the RAS/MAPK pathway, such as neurofibromatosis type 1, Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome. (medscape.com)
  • [ 4 ] Molecular studies have proven that LEOPARD syndrome and Noonan syndrome are allelic disorders caused by different missense mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at band 12q24.1. (medscape.com)
  • In 2005, Ogata and Yoshida documented that PTPN11 mutations can be identified in approximately 40% of Noonan syndrome patients and in greater than 80% of LEOPARD syndrome patients. (medscape.com)
  • In 2006, Hanna et al found that Noonan syndrome mutations enhance SHP-2 catalytic activity, whereas the activity of representative LS mutants is undetectable when assayed using a standard PTP substrate. (medscape.com)
  • [ 11 ] They revealed that whereas Noonan syndrome is caused by gain-of-function PTPN11 mutations, LEOPARD syndrome mutants are catalytically defective and act as dominant negative mutations that interfere with growth factor/Erk-mitogen-activated protein kinase-mediated signaling. (medscape.com)
  • In 2006, Tartaglia et al reported that germline mutations in the PTPN11 gene cause LEOPARD and Noonan syndromes, whereas somatic mutations in the same gene contribute to leukemogenesis. (medscape.com)
Lumbar4
  • Typically, stenosis is seen in up to 80% of people above 60 years of age, with an estimated 5% having coexisting cervical and lumbar stenosis (also called tandem spinal stenosis). (spine-health.com)
  • As shown below, the Board does find that the Veteran is entitled to a 60 percent rating for his lumbar spine disability based on incapacitating episodes of intervertebral disc syndrome from July 11, 2007. (va.gov)
  • Lumbar spinal stenosis (LSS) is a narrowing of the lumbar canal causing lower back pain, gluteal pain, and neurogenic claudication. (londonspine.com)
  • I was diagnosed with lumbar stenosis after experiencing increasing pain in both legs. (londonspine.com)
Carotid1
  • We will sit with the patient and their spouse or partner and then tell them that we believe many of their symptoms are coming from compression of their jugular vein, the compression is being caused by pressure from the cervical vertebrae or a problem with the styloid process at the base of the skull and possible carotid artery syndrome. (caringmedical.com)
Echocardiography3
Spine surgery1
Abnormalities2
  • In addition to the usual abnormalities of the pulmonary valve and the ventricular myocardium, the patient showed a wide spectrum of previously unreported coronary aneurysms.Conclusions:These additional findings support the hypothesis that a vasculitic process has been superimposed on the connective tissue defect associated with Noonan's syndrome. (medscimonit.com)
  • Furthermore, since the pathogenesis of the condition remains unclear, this case stresses the need to look carefully for abnormalities co-expressed in Noonan's syndrome. (medscimonit.com)
Complications1
Medullary1
  • Medullary stenosis was detected in 2 patients. (who.int)
Symptoms2
  • The signs and symptoms of central canal stenosis may be felt on either or both sides of the body and may include sharp, shock-like pain, tingling, numbness, and/or weakness that may radiate into the arms or legs. (spine-health.com)
  • Central canal stenosis may not always cause pain or other symptoms. (spine-health.com)
Degenerative1
  • 1 Meyer F, Börm W, Thomé C. Degenerative cervical spinal stenosis: current strategies in diagnosis and treatment. (spine-health.com)
Diagnosis2
  • Eagle syndrome and the Diagnosis of Stylohyoid Complex Syndrome , for a more detailed understanding of jugular vein compression caused by a hypermobile or elongated styloid bone. (caringmedical.com)
  • Diagnosis and appropriate correction of intrauterine anomalies are considered et d'Application en Chirurgie essential in order to increase chances of conception. (who.int)
Atherosclerosis3
  • The cause of aortic sclerosis and stenosis is not yet known but is mediated by an inflammatory process that is similar to but distinct from atherosclerosis. (msdmanuals.com)
  • Lipoprotein (a) is implicated in the pathogenesis of both aortic stenosis and atherosclerosis. (msdmanuals.com)
  • are at increased risk for atherosclerosis, and more recently, psoriasis has been tied to an increased risk of aortic stenosis. (msdmanuals.com)
Disease1
  • Metabolic syndrome (MetS), a pro-inflammatory condition involving a cluster of risk factors for cardiovascular disease and diabetes, is increasingly prevalent worldwide. (londonspine.com)
Cauda1
  • This is known as cauda equina syndrome, a medical emergency that can cause incontinence and paralysis. (rxlist.com)
Anomalies2
  • Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. (scielo.br)
  • Smith-Lemli-Opitz (SLOS) or RSH syndrome (MIM 270400) comprises multiple congenital anomalies, mental retardation and an autosomal recessive inborn error of cholesterol metabolism. (scielo.br)
Congenital rubella4
  • In line with the regional aim of eliminating rubella and congenital rubella syndrome (CRS), phased introduction of rubella-containing vaccines (RCV) in the Philippines' routine immunization programme began in 2010. (who.int)
  • While most infections are mild, infection in a pregnant woman may cause devastating foetal malformations and may result in stillbirths, miscarriage or a pattern of birth defects known as congenital rubella syndrome (CRS). (who.int)
  • Infants with congenital rubella syndrome usually present with more than one sign or symptom consistent with congenital rubella infection. (cdc.gov)
  • Congenital Rubella Syndrome cases will be classified epidemiologically as internationally imported or U.S.-acquired, according to the source of infection in the mother, using the definitions below, which parallel the classifications for rubella cases. (cdc.gov)
Sanjad Sakati6
  • ABSTRACT Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. (who.int)
  • This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan. (who.int)
  • RÉSUMÉ Le syndrome de Sanjad-Sakati est un trouble autosomique récessif rare qui a été décrit dans la population arabe. (who.int)
  • Il s'agit de la première série de cas du syndrome de Sanjad-Sakati confirmés génétiquement en Jordanie. (who.int)
  • Sanjad Sakati syndrome has been re- low birth weight. (who.int)
  • ABSTRACT We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. (who.int)
Progresses1
  • Over years, aortic sclerosis progresses to stenosis in as many as 15% of patients. (msdmanuals.com)
Metabolic1
  • Stenosis typically develops over time as a result of natural changes in the spine, although trauma, metabolic conditions, infections, and previous surgery may aggravate or advance this condition. (spine-health.com)
Characteristic1
  • The valve itself was thickened and dysplastic, a characteristic that is typical of Noonan's syndrome. (medscimonit.com)
Diagnose1
Patients4
  • Introduction: This prospective study was planned to investigate the frequency and relationship of acquired von Willebrand syndrome (AVWS) with aortic and pulmonary stenosis in patients. (kocaeli.edu.tr)
  • Patients with the syndrome may also have low-set ears and a low hairline. (gponline.com)
  • Importantly, however, not all patients with LEOPARD syndrome demonstrate linkage to 12q24.1. (medscape.com)
  • Abnormal uterine findings were de Recherche et d'Application en identified in 95.8% of patients attending hysteroscopy at GESHRTH. (who.int)
Disorder2
Developmental1
  • STAR, Inc., Lighting the Way is a nonprofit organization established in 1952 to serve individuals of all ages who are impacted by intellectual and developmental disabilities (I/DD) in Fairfield County (including Down syndrome and Autism), as well as providing support services to their families. (stamfordplus.com)
Valve1
  • Since the valve does not open properly in aortic stenosis, there is a decrease in the forward movement of blood into the aorta. (wikipedia.org)