Search results for " Rare Diseases"

showing 4 items of 14 documents

The Challenges of the European Anorectal Malformations-Net Registry

2015

Item does not contain fulltext Anorectal malformations (ARM) have a low prevalence, patients need specialized surgical care, and in many cases, patients born with ARM even need life-long aftercare. Due to its low prevalence most patients are still treated in low-volume pediatric surgical centers without any adequate monitoring of the outcome. Data on prevalence, comparison of different surgical techniques, and prospective outcome measurements are still scarce and difficult to interpret. In 2010, a consortium was founded (ARM-Net consortium) including several European pediatric surgical centers to collaborate more in research and share knowledge on ARM. One of the structures started by the c…

Registrymedicine.medical_specialtyPediatricsOutcome measurementsbusiness.industryGeneral surgerySurgical careRectumAnal CanalNetworkAnorectal malformationAnorectal MalformationsRare diseasesAnorectal malformation; Network; Rare diseases; RegistryReconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]Anus ImperforateEuropeReconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10]Pediatrics Perinatology and Child HealthStill facemedicineHumansSurgeryRegistriesbusinessEuropean Journal of Pediatric Surgery
researchProduct

Rare Cancers Europe (RCE) methodological recommendations for clinical studies in rare cancers: A European consensus position paper

2015

While they account for one-fifth of new cancer cases, rare cancers are difficult to study. A higher than average degree of uncertainty should be accommodated for clinical as well as for population-based decision making. Rules of rational decision making in conditions of uncertainty should be rigorously followed and would need widely informative clinical trials. In principle, any piece of new evidence would need to be exploited in rare cancers. Methodologies to explicitly weigh and combine all the available evidence should be refined, and the Bayesian logic can be instrumental to this end. Likewise, Bayesian-design trials may help optimize the low number of patients liable to be enrolled in …

Research designPathologyData baseResearch methodologyElectronic medical recordDiseaseReviewProceduresTreatment responseClinical trials; Rare cancers; Research methodology; Clinical Studies as Topic; Humans; Neoplasms; Rare Diseases; Research Design; Hematology; OncologyClinical trialsNeoplasmsReimbursementPriority journaleducation.field_of_studyClinical Studies as TopicClinical studies as topicHematologyRare diseasesEuropeOncologyResearch designResearch DesignClinical decision makingHumanmedicine.medical_specialtyPractice guidelineCase findingPopulationHealth care qualityReviewsCancer researchClinical studyRare DiseasesSDG 3 - Good Health and Well-beingConceptual frameworkmedicineHumansRare cancersTumor markerIntensive care medicineeducationAntineoplastic activityFlexibility (engineering)Surrogate endpointbusiness.industryMethodologyRare cancerStudy designCancer survivalReimbursementClinical trialClinical trials; Rare cancers; Research methodology; Hematology; OncologyPatient informationClinical effectivenessPosition paperNeoplasmbusinessRare disease
researchProduct

Musculoskeletal manifestations in children with Behçet's syndrome: data from the AIDA Network Behçet's Syndrome Registry

2023

AbstractThis study aims to describe musculoskeletal manifestations (MSM) in children with Behçet’s syndrome (BS), their association with other disease manifestations, response to therapy, and long-term prognosis. Data were retrieved from the AIDA Network Behçet’s Syndrome Registry. Out of a total of 141 patients with juvenile BS, 37 had MSM at disease onset (26.2%). The median age at onset was 10.0 years (IQR 7.7). The median follow-up duration was 21.8 years (IQR 23.3). Recurrent oral (100%) and genital ulcers (67.6%) and pseudofolliculitis (56.8%) were the most common symptoms associated with MSM. At disease onset, 31 subjects had arthritis (83.8%), 33 arthralgia (89.2%), and 14 myalgia (…

Settore MED/16 - REUMATOLOGIABehçet's diseaseBehçet’s syndromeArthritisArthritis; Behçet’s syndrome; International registry; Pediatric rheumatology; Rare diseasesRare diseasesSettore MED/38 - Pediatria Generale E SpecialisticaArthritis Behçet’s syndrome International registry Pediatric rheumatology Rare diseasesInternational registryEmergency MedicineInternal MedicineAutoinflammationPediatric rheumatologyArthriti
researchProduct

Adhesive capsulitis in a patient affected by KBG Syndrome

2021

Background and Case presentation: KBG syndrome is a multiple congenital anomaly syndrome with variable presentation. Many physical anomalies also affect the orthopaedic field. We present a case of a young woman with diagnosis of KBG syndrome that is also affected by joint stiffness and adhesive capsulitis to the shoulders. Discussion: Many other cases have been reported to present joint stiffness and formation of keloids. Adhesive capsulitis is known to be related to autoimmune pathologies and endocrinological disorders. KBG syndrome is caused by heterozygous mutation in ANKRD11 gene and few patients with hypermobility of the joints have also been reported. Conclusions: The KBG syndrome mig…

ShoulderRare DiseasesAdhesive CapsulitisAdhesive Capsulitis; ANKRD11; KBG syndrome; Rare Diseases; ShoulderANKRD11KBG syndrome
researchProduct