Search results for " involvement"

showing 10 items of 130 documents

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia

2017

We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since th…

Hypoceruloplasminemiacongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtySettore MED/09 - Medicina InternaUrinary systemHypercholesterolemiaArticleInternal medicineNeurohepatic involvementmedicineCDG-IIGlycomicsExome sequencingWhole genome sequencingchemistry.chemical_classificationbiologybusiness.industryHaptoglobinAntithrombinmedicine.diseaseDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]EndocrinologyMALDI TOFchemistryTransferrinbiology.proteinCDGAntibodybusinessCongenital disorder of glycosylationmedicine.drug
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Extranodal extension of nodal metastasis is the main prognostic moderator in squamous cell carcinoma of the esophagus after neoadjuvant chemoradiothe…

2017

Several studies, including comprehensive systematic reviews with meta-analyses of our group of research, have demonstrated the negative prognostic impact of the extranodal extension of nodal metastasis (ENE) in different cancer types, including squamous cell carcinoma (SCC) of the vulva, of the penis and of head and neck, as well as in tumors of the digestive and genitourinary systems, in thyroid cancer and others (1-17).

INVOLVEMENTPulmonary and Respiratory MedicineOncologymedicine.medical_specialtyIMPACTcell carcinomaVulva03 medical and health sciences0302 clinical medicineInternal medicineMedicineBAP1HEADEsophagusLetter to the EditorThyroid cancerMETAANALYSISBAP1business.industryGenitourinary systemExtranodal ExtensionEXTRACAPSULAR SPREAD; CANCER; METAANALYSIS; INVOLVEMENT; IMPACT; HEAD; BAP1Cancermedicine.diseaseCANCERstomatognathic diseasesEditorialmedicine.anatomical_structure030220 oncology & carcinogenesis030211 gastroenterology & hepatologyEXTRACAPSULAR SPREADbusinessPenisJournal of Thoracic Disease
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Reframing health care through social media

2015

This teaching case presents the story of the Hospital Campus (HC) project and its effort to reframe health-care services for the elderly through the adoption of social media. In a world of global ageing, in which an increased number of elderly patients will be cared for by a shrinking number of workers, a primary challenge is how to use technology to provide better and more efficient services for the elderly. The HC campus project focuses on how to involve information technology-illiterate elderly patients and their social networks in the design and use of social media services to improve their quality of life. In describing the development of the project, we focus on the elderly patients’…

Information managementbusiness.industrysocial mediaelderly careCognitive reframingLibrary and Information SciencesPublic relationsHealth informaticshealth-care servicesInformation scienceEducationintermediariesIntermediaryQuality of life (healthcare)teaching case social media health-care services elderly care intermediaries citizen involvementPolitical scienceteaching caseHealth careSocial mediacitizen involvementbusinessJournal of Information Technology Teaching Cases
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"Phonebloks, or a phone developed by its future users" : user experiences of a forum for a modular phone concept

2016

In late 2013, a project caught my attention as being interesting to me and potentially a lot of others, innovative, and environmentally friendly: a smartphone project called Phonebloks. This timing fitting perfectly with the start of my Master's thesis as well as my personal interests, I observed it to see how it would develop. The official website which was created let users debate in order to decide where this Phonebloks project should go, so I decided to focus my efforts on it. This thesis describes perceptions of users regarding an online forum about a new kind of phone, called Phonebloks. On this forum they can debate about the future of the phone. I based my analysis on research on fo…

Kvalitatiivinen analyysiuser involvementforumqualitative analysissmartphone
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Malignant lymphoma of the oral cavity and the maxillofacial region: overall survival prognostic factors

2013

Objective: To identify the overall survival and prognostic factors of malignant lymphoma of the oral cavity and the maxillofacial region. Study Design: Clinical records data were obtained in order to determine overall survival at 2 and 5 years, the individual survival percentage of each possible prognostic factor with the actuarial technique, and the survival regarding the possible prognostic factors with the actuarial technique and the Log-rank and Cox's regression tests. Results: Of 151 subjects, an overall survival was 60% at 2 years, and 45% at 5 years. The multivariate analysis demonstrated statistically significant differences for clinical stage (p=0.002), extranodal involvement (p=0.…

MaleOncologymedicine.medical_specialtyTime FactorsMultivariate analysisLymphomaCross-sectional studyOdontologíasurvivalInternal medicinemedicineHumansStage (cooking)Extranodal InvolvementGeneral DentistrySurvival rateAgedRetrospective StudiesMaxillary NeoplasmsMouth neoplasmOral Medicine and Pathologybusiness.industryRetrospective cohort studyMiddle Aged:CIENCIAS MÉDICAS [UNESCO]Prognosismedicine.disease//purl.org/pe-repo/ocde/ford#3.02.14 [https]Ciencias de la saludSurgeryLymphomaSurvival RateCross-Sectional StudiesOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASoral cavityResearch-ArticleFemaleMouth NeoplasmsSurgerybusiness
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Reconstruction with a pectoralis major myocutaneous flap after left first rib and clavicular chest wall resection for a metastasis from laryngeal can…

2016

We presented a case of recurrent metastasis from epidermoid cancer that occurred in the left clavicle of a patient with a history of laryngeal cancer treated on April 2005 with extended hemilaryngectomy, neck dissection and chemoradiation therapy. On September 2008, he developed a left clavicular metastasis. The disease was initially well controlled by chemoradiotherapy but it recurred 17 months later. The optimal treatment plan was established by several multidisciplinary meetings and the patient subsequently underwent an en bloc resection of the left clavicle, first rib and all the other involved structures. Coverage of the thoracic defect was achieved using pectoralis major myocutaneous …

MalePulmonary and Respiratory Medicinemedicine.medical_specialtymedicine.medical_treatmentSettore MED/21 - Chirurgia ToracicaBone NeoplasmsRibsClavicular resection030204 cardiovascular system & hematologyMetastasisHemilaryngectomy03 medical and health sciences0302 clinical medicineChest wall involvementLaryngeal cancermedicineHumansThoracoplastyNeoplasm MetastasisThoracic WallLaryngeal NeoplasmsRib cagebusiness.industryBone metastasisCancerNeck dissectionGeneral MedicineMiddle AgedPlastic Surgery ProceduresMuscle flapmedicine.diseaseClavicleMyocutaneous FlapSurgerySettore MED/18 - Chirurgia GeneraleCardiothoracic surgeryChest wall involvement; Chest wall reconstruction; Clavicular resection; Laryngeal cancer; Muscle flap; Surgery; Pulmonary and Respiratory Medicine; Cardiology and Cardiovascular MedicineCarcinoma Squamous CellSurgeryNeoplasm Recurrence LocalbusinessChest wall reconstructionCardiology and Cardiovascular Medicine030217 neurology & neurosurgeryChemoradiotherapy
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Coronary involvement in Mediterranean spotted fever

2011

Mediterranean spotted fever (MSF) is a tick-borne acute febrile disease caused by Rickettsia conorii and characterized by fever, a maculo-papular rash and a black eschar at the site of the tick bite. We describe the case of a 3-year-old boy with MSF who developed a transient right coronary artery ectasia. The patient was brought to the hospital after four days of fever and mild myalgia of the legs. The suspicion of MSF arose due to the presence of a maculo-papular skin rash and treatment with oral clarithromycin was started. After four days fever persisted and the differential diagnosis of Kawasaki syndrome was considered. Echocardiography showed a dilated right coronary artery with hyperre…

MaleRickettsia conoriiSettore MED/38 - Pediatria Generale E SpecialisticaItalyEchocardiographyChild PreschoolHumansCoronary Artery DiseaseBoutonneuse FeverCoronary involvement Mediterranean spotted feverDilatation Pathologic
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Epidemiology of enuresis: a large number of children at risk of low regard

2020

Abstract Aim To describe the epidemiological aspects of nocturnal enuresis (NE). In this study we identify the prevalence and the familial conditions in a large, representative sample of children with monosymptomatic NE (MNE) and nonmonosyptomatic NE (NMNE). Material and methods In this descriptive-analytic study the Italian Society of Pediatrics (SIP) promoted a prevalence study of NE using a questionnaire involved 320 primary care Pediatricians from Northern, Central and Southern Italy, from January 2019 to July 2019, with a total of 130,000 children analyzed by questionnaire related to epidemiology and type of NE, familiarity, quality of sleep, eating and drinking habits, pharmacological…

Malemedicine.medical_specialtyFamily involvementEpidemiologyQuality of sleep030232 urology & nephrologyPrimary care03 medical and health sciences0302 clinical medicineRisk FactorsEnuresisSurveys and Questionnaires030225 pediatricsIntervention (counseling)EpidemiologyPrevalenceEnuresiHumansMedicineChildChildrenRetrospective Studiesbusiness.industryResearchlcsh:RJ1-570lcsh:PediatricsEnuresisSettore MED/38Drinking habitsItalyChild PreschoolFamily medicineFemaleSymptom Assessmentmedicine.symptombusinessNegative reactionNocturnal Enuresis
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Improved outcome in multisystem Langerhans cell histiocytosis is associated with therapy intensification

2007

Multisystem Langerhans cell histiocytosis (MS-LCH) is associated with high mortality when patients have risk organ involvement (RO+) or are younger than 2 years. In an international randomized trial, LCH-II, we intensified their treatment: arm A consisted of 6 weeks of daily prednisone and weekly vinblastine followed by 18 weeks of daily 6-mercaptopurine with vinblastine/prednisone pulses; etoposide was added in arm B. Considering all 193 randomized risk patients, there were similar outcomes: rapid (6 weeks) response (arm A vs arm B: 63%/71%), 5-year survival probability (74%/79%), disease reactivation frequency (46%/46%), and permanent consequences (43%/37%). However, (1) patients younger …

Malemedicine.medical_specialtyImmunologyAdult Langerhans Cell HistiocytosisBiochemistryGastroenterologylaw.inventionLangerhans cell histiocytosisRandomized controlled trialRisk FactorsPrednisonelawInternal medicineHumansMedicineEtoposideDemographyHematologybusiness.industryInfantCell BiologyHematologymedicine.diseaseSurgeryVinblastineSurvival RateHistiocytosis Langerhans-CellTreatment OutcomeChild PreschoolOrgan involvementFemalebusinessmedicine.drugBlood
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Recommendations for standardization and phenotype definitions in genetic studies of osteoarthritis: the TREAT-OA consortium

2011

Objective: To address the need for standardization of osteoarthritis (OA) phenotypes by examining the effect of heterogeneity among symptomatic (SOA) and radiographic osteoarthritis (ROA) phenotypes. Methods: Descriptions of OA phenotypes of the 28 studies involved in the TREAT-OA consortium were collected. We investigated whether different OA definitions result in different association results by creating various hip OA definitions in one large population based cohort (the Rotterdam Study I (RSI)) and testing those for association with gender, age and body mass index using one-way ANOVA. For ROA, we standardized the hip-, knee- and hand ROA definitions and calculated prevalence's of RO…

Malenivelrikkomedicine.medical_specialtygenetiikkaBiomedical EngineeringMEDLINEdiagnostiset kriteeritOsteoarthritisbehavioral disciplines and activitiesArticleCohort Studies03 medical and health sciencesRotterdam Study0302 clinical medicineRheumatologyInternal medicineTREATOAOsteoarthritismedicinePrevalenceGeneticsHumansOrthopedics and Sports Medicine030304 developmental biologyRheumatology and Autoimmunity2. Zero hunger030203 arthritis & rheumatology0303 health sciencesAnalysis of Varianceperinnöllisyystiedebusiness.industryCase-control studyDefinitionReference Standardsmedicine.diseaseGenetics Osteoarthritis Phenotype Definition TREATOA genome-wide association radiographic hip osteoarthritis bone-mineral density knee osteoarthritis hand osteoarthritis osteoporotic fractures general-population joint involvement risk-factors susceptibilityRheumatology3. Good healthPhenotypeCase-Control Studiesdiagnostic criteriaCohortPhysical therapyFemalebusinessBody mass indexCohort study
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