Search results for "AEM"

showing 10 items of 1006 documents

Lymphoproliferative disorders in Sotos syndrome: Observation of two cases

1996

Sotos syndrome is included among the overgrowth disorders, most of which have an increased risk of neoplasms. Sotos syndrome does not appear to be related to a specific tumor type, but rather to the development of solid tumors of ectodermal or mesodermal origin in general. We report on two Sotos syndrome patients who developed a non-Hodgkin lymphoma and an acute lymphoblastic leukaemia, respectively. Our experience suggests that there may exist a high frequency of lymphoproliferative disorders in Sotos syndrome, and points out the importance of a long-term follow-up of Sotos syndrome patients, to detect a possible neoplastic evolution. ©1996 Wiley-Liss, Inc.

MalePathologymedicine.medical_specialtyLymphoproliferative disordersOvergrowth syndromeshemic and lymphatic diseasesmedicineHumansAbnormalities MultipleTumor typeSotos syndromeGrowth DisordersGenetics (clinical)Sotos syndromebusiness.industrySkullBrainSyndromemedicine.diseasePhenotypeLymphoproliferative DisordersLymphomaIncreased riskEl NiñoChild PreschoolLymphoblastic leukaemiabusinessAmerican Journal of Medical Genetics
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Sudden death in adolescence caused by cardiac haemangioma

2009

Primary tumors of the heart in infants and children are rare. The types of heart tumors in pediatric age groups are generally different from those in adults. Cardiac myxoma is by far the most common tumor in adults, but in infants and adolescents the prevalent tumor of the heart is rhabdomyoma. Among benign cardiac tumors, cardiac hemangiomas are rare and often diagnosed post-mortem due to the lack of specific clinical symptoms and signs. We report a case of sudden death due to cardiac hemangioma in an apparently healthy 15-year-old adolescent. The autopsy revealed a cardiac hemangioma located at the apex of the heart; the histopathological examination showed the tumor was a mixed capillary…

MalePathologymedicine.medical_specialtyPrimary tumors of the heartAdolescentAutopsyRhabdomyomaSettore MED/08 - Anatomia PatologicaSudden death cardiac haemangiomaSudden deathPathology and Forensic MedicineHemangiomaHeart NeoplasmsDeath SuddenSettore MED/43 - Medicina LegalemedicineHumanscardiovascular diseasesHemangioma CapillaryForensic Pathologybusiness.industryMyocardiumCardiac hemangiomaMyxomaGeneral Medicinemedicine.diseasePrimary tumorcardiovascular systembusinessLaw
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Human Epidermal Langerhans Cells Replenish Skin Xenografts and Are Depleted by Alloreactive T Cells In Vivo

2011

Abstract Epidermal Langerhans cells (LC) are potent APCs surveying the skin. They are crucial regulators of T cell activation in the context of inflammatory skin disease and graft-versus-host disease (GVHD). In contrast to other dendritic cell subtypes, murine LC are able to reconstitute after local depletion without the need of peripheral blood-derived precursors. In this study, we introduce an experimental model of human skin grafted to NOD-SCID IL2Rγnull mice. In this model, we demonstrate that xenografting leads to the transient loss of LC from the human skin grafts. Despite the lack of a human hematopoietic system, human LC repopulated the xenografts 6 to 9 wk after transplantation. By…

MalePathologymedicine.medical_specialtyT cellCellular differentiationTransplantation HeterologousImmunologyGraft vs Host DiseaseMice TransgenicHuman skinMice SCIDCD8-Positive T-LymphocytesBiologyLymphocyte ActivationMiceCell MovementMice Inbred NODIn vivomedicineAnimalsHumansImmunology and AllergyCells CulturedCell ProliferationMice KnockoutCell Deathintegumentary systemEpidermis (botany)Cell DifferentiationSkin TransplantationDendritic cellTransplantationDisease Models AnimalHaematopoiesismedicine.anatomical_structureLangerhans CellsCancer researchFemaleEpidermisThe Journal of Immunology
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Clinical features and follow-up in patients with 22q11.2 deletion syndrome

2014

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…

MalePediatrics22q11.2 deletionDelayed DiagnosisTime FactorsChromosomes Human Pair 22Developmental Disabilitiesdigeorge syndromeSex FactorSeverity of Illness IndexRetrospective StudieDiGeorge syndromeEarly DiagnosiAge FactorProspective StudiesNeonatal hypocalcemiaProspective cohort studyChildmedicine.diagnostic_testDelayed Diagnosi22q11.2 deletion; Primary immune disordersAge Factorsdel 22qMIMAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease ProgressionChild PreschoolCohortDisease ProgressionPrimary immune disordersFemaleAbnormalitiesMultipleAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease Progression; Pediatrics Perinatology and Child HealthHumanAdultmedicine.medical_specialtyTime FactorAdolescentMonitoringDevelopmental DisabilitieItalian Association of Pediatric Haematology and OncologyContext (language use)Risk AssessmentChromosomesFollow-Up StudieYoung AdultSex FactorsSeverity of illnessmedicineDiGeorge SyndromeHumansAbnormalities MultipleGenetic Testing22q11DS; 22q11.2 deletion syndrome; AIEOP; Italian Association of Pediatric Haematology and Oncology; MIM; Mendelian Inheritance in Man22q11DSPreschoolPhysiologicdigeorge syndrome; del 22qGenetic testingMonitoring PhysiologicRetrospective StudiesSettore MED/38 - Pediatria Generale e Specialisticabusiness.industryMendelian Inheritance in ManInfant NewbornInfantRetrospective cohort studymedicine.diseaseNewbornAIEOPProspective StudieEarly Diagnosis22q11.2 deletion syndromePediatrics Perinatology and Child HealthPair 22businessFollow-Up Studies
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Air pollution and childhood leukaemia: a nationwide case-control study in Italy

2013

Objectives Leukaemia is the most common cancer in children, but its aetiology is still poorly understood. We tested the hypothesis that traffic-related air pollution is associated with paediatric leukaemia because of chronic exposure to several potential carcinogens. Methods The Italian SETIL study (Study on the aetiology of lymphohematopoietic malignancies in children) was conducted in 14 Italian regions. All incident cases of leukaemia in children aged ≤10 years from these regions (period 1998–2001) were eligible for enrolment. Two controls per case, matched on birth date, gender and region of residence were randomly selected from the local population registries. Exposure assessment at bi…

MalePediatricsAir pollutionNO2Land use Regression ModelLogistic regressionmedicine.disease_causeEconomicaResidence CharacteristicsUSE REGRESSION-MODELSMedicineChildChildrenVehicle EmissionsGeneral Environmental ScienceUSE REGRESSION-MODELS RESIDENTIAL TRAFFIC DENSITY MAGNETIC-FIELDS POOLED ANALYSIS RISK-FACTOR CANCER EXPOSURE CHILDREN NO2 ASSOCIATIONLeukemiaIncidenceIncidence (epidemiology)ASSOCIATIONCANCERChildhood leukaemiaItalyChild PreschoolFemaleCase-Control StudieHumanmedicine.medical_specialtySocio-culturaleMAGNETIC-FIELDSPOOLED ANALYSISRISK-FACTORAir PollutionOccupational ExposureEnvironmental healthTraffic IndicatorHumansEXPOSURERESIDENTIAL TRAFFIC DENSITYExposure assessmentVehicle Emissionbusiness.industryPublic Health Environmental and Occupational HealthCase-control studyAmbientaleInfantCarcinogens EnvironmentalAutomobileCase-Control StudiesResidence CharacteristicDispersion ModelEtiologyGeneral Earth and Planetary SciencesParticulate MatterResidencebusinessAutomobilesOccupational and Environmental Medicine
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SETIL: Italian multicentric epidemiological case–control study on risk factors for childhood leukaemia, non hodgkin lymphoma and neuroblastoma: study…

2014

Background Aetiology of childhood leukaemia and childhood neoplasm is poorly understood. Information on the prevalence of risk factors in the childhood population is limited. SETIL is a population based case–control study on childhood leukaemia, conducted with two companion studies on non-Hodgkin Lymphoma (NHL) and neuroblastoma. The study relies on questionnaire interviews and 50 Hz magnetic field (ELF-MF) indoor measurements. This paper discusses the SETIL study design and includes descriptive information. Methods The study was carried out in 14 Italian regions (78.3% of Italian population aged 0–10). It included leukaemia, NHL and neuroblastoma cases incident in 0–10 year olds in 1998–20…

MalePediatricsPassive smokingLymphomaEpidemiologyNon hogdkin lymphomamedicine.disease_causeSettore MED/42 - Igiene Generale E ApplicataNeuroblastomaEconomicahemic and lymphatic diseasesEpidemiologyPrevalencerisk factorsLeukaemiaChildeducation.field_of_studyIncidence (epidemiology)IncidenceLymphoma Non-Hodgkinnon hodgkin lymphoma and neuroblastomaEnvironmental exposureItalyChild PreschoolPopulation studyFemaleHumanmedicine.medical_specialtyPopulationNon-HodgkinSocio-culturalestudy populationRisk Assessmentchildhood leukaemiamedicineHumanseducationPreschoolPregnancybusiness.industryResearchrisk factors; childhood leukaemia; non hodgkin lymphoma and neuroblastoma; study populationCase-control studyInfant NewbornAmbientaleInfantEnvironmental Exposuremedicine.diseaseNewbornbusiness
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Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort

2015

Abstract Background and aims The efficacy and safety of lomitapide as adjunct treatment for adults with homozygous familial hypercholesterolaemia (HoFH) have been confirmed in a phase 3 trial. Given the small number of patients (N = 29), and variations in patient characteristics, examining individual cases provides additional details regarding patient management with lomitapide. Here, we examine the details of the Italian patient cohort in the phase 3 trial. Methods and results The methodology of the multinational, single-arm, open-label, 78-week, dose-escalation, phase 3 trial has been previously reported. The current report details the Italian cohort of six patients (three males, three fe…

MalePediatricsTime FactorsSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismHoFHMedicine (miscellaneous)030204 cardiovascular system & hematologychemistry.chemical_compound0302 clinical medicineEndocrinologyReceptorsNutrition and DieteticMedicine030212 general & internal medicineFamilial hypercholesterolaemia; FH; HoFH; Homozygous familial hypercholesterolaemia; Lomitapide; Therapy; Medicine (miscellaneous); Nutrition and Dietetics; Endocrinology Diabetes and Metabolism; Cardiology and Cardiovascular MedicineFH; Familial hypercholesterolaemia; HoFH; Homozygous familial hypercholesterolaemia; Lomitapide; Therapy; Adolescent; Adult; Anticholesteremic Agents; Benzimidazoles; Biomarkers; Cholesterol LDL; Female; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Italy; Male; Middle Aged; Phenotype; Receptors LDL; Time Factors; Treatment Outcome; Young Adult; Heterozygote; MutationNutrition and DieteticsAnticholesteremic AgentsMiddle AgedPatient managementDiabetes and MetabolismCholesterolPhenotypeTreatment OutcomeTolerabilityItalyCohortPopulation studyFemaleFamilial hypercholesterolaemiaCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyHeterozygoteAdolescentSocio-culturaleFHLDLHyperlipoproteinemia Type II03 medical and health sciencesIndividual analysisYoung AdultHomozygous familial hypercholesterolaemiaHumansGenetic Predisposition to DiseaseAdverse effectbusiness.industryCholesterol LDLLomitapideLomitapideClinical trialchemistryReceptors LDLMutationBenzimidazolesTherapybusinessBiomarkers
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Incidence, time trends and regional variation of childhood leukaemia in Germany and Europe.

2008

This paper presents data on the German and Europe-wide incidence, time trends and regional variations of childhood leukaemia. Data were provided by the German Childhood Cancer Registry (GCCR), a population-based cancer registry recording all cases of malignant diseases in children under 15 y of age residing in Germany and by the Automated Childhood Cancer Information System (ACCIS) co-ordinated at International Agency for Research on Cancer, Lyon, that combines and evaluates data from several European population-based cancer registries. The incidence of leukaemia (44.0 per million) has increased in Europe as well as in Germany in the last decades (0.6% annually on average). Germany shows no…

MalePediatricsmedicine.medical_specialtyAdolescentPopulationDisease OutbreaksGermanGermanymedicineHumansRadiology Nuclear Medicine and imagingRegistrieseducationChildChildhood Cancer Registryeducation.field_of_studyRadiationLeukemiaRadiological and Ultrasound TechnologyIncidence (epidemiology)IncidencePublic Health Environmental and Occupational HealthInfant NewbornCancerInfantGeneral Medicinemedicine.diseaselanguage.human_languageChildhood leukaemiaCancer registryEuropeGeographyRegional variationChild PreschoollanguageFemaleDemographyRadiation protection dosimetry
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Growth hormone and hematopoiesis: A retrospective analysis on a large cohort of children with growth hormone deficiency

2018

Objective: Few large-scale studies regarding the impact of GH deficiency (GHD) on hematopoiesis in children have been reported. Our aim was to investigate hematopoiesis indices in a large cohort of GHD children at diagnosis and during GH treatment (GHT) and any correlation with hormonal parameters. Design: Clinical and biochemical data of children with idiopathic GHD at diagnosis and annually up to 36 months of GHT were retrospectively evaluated. Overall, 255 children reached 12 months, 140 children 24 months and 86 children 36 months of follow-up during GHT. Results: At baseline, 18.4% of GHD children and 10.1% of controls showed normocytic anemia. GHD children showed lower hemoglobin (Hb)…

MalePediatricsmedicine.medical_specialtyAnemiaEndocrinology Diabetes and Metabolism030209 endocrinology & metabolismSettore MED/13 - EndocrinologiaGrowth hormone deficiency03 medical and health sciences0302 clinical medicineEndocrinologyHumansGrowth hormone treatmentMedicineHematopoiesiInsulin-Like Growth Factor IChildChildrenGrowth hormoneGrowth DisordersRetrospective StudiesHuman Growth Hormonebusiness.industryAnemiaNormocytic anemiamedicine.diseaseHematopoiesisGrowth hormone treatmentHaematopoiesisChild Preschool030220 oncology & carcinogenesisErythropoiesisFemaleGrowth hormone deficiencyHemoglobinbusinessHormoneGrowth Hormone & IGF Research
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The safety, reactogenicity and immunogenicity of a 7-valent pneumococcal conjugate vaccine (7VPnC) concurrently administered with a combination DTaP-…

2003

To evaluate immune responses, safety and reactogenicity of the concomitant use of DTaP-IPV-Hib and the newly available 7-valent pneumococcal conjugate (7VPnC) vaccines when given as the primary immunization series in early infancy. A total of 231 healthy infants were enrolled at 11 German study centers and randomized to receive either 7VPnC plus DTaP-IPV-Hib vaccines concomitantly into opposite limbs at age 2, 3, 4 and 11-15 months (7VPnC group) or DTaP-IPV-Hib vaccine at the same ages plus a 7VPnC "catch-up vaccination" at ages 6, 7, 8 and 11-15 months (Control group). Blood samples were drawn before and 4 weeks after the first three vaccine doses and 4 weeks after the fourth dose. Local a…

MalePediatricsmedicine.medical_specialtyImmunization SecondaryEnzyme-Linked Immunosorbent AssayHerpesvirus VaccinesAntibodies ViralPneumococcal conjugate vaccinePneumococcal VaccinesmedicineHumansVaccines CombinedDiphtheria-Tetanus-Pertussis VaccineImmunization ScheduleHaemophilus VaccinesHerpesvirus 1 BovineReactogenicityVaccines ConjugateGeneral VeterinaryGeneral Immunology and Microbiologybusiness.industryDiphtheriaImmunogenicityPublic Health Environmental and Occupational HealthInfantmedicine.diseaseAntibodies BacterialVaccinationPoliovirus VaccinesInfectious DiseasesImmunizationConcomitantChild PreschoolImmunologyMolecular MedicineFemalePertactinbusinessmedicine.drugVaccine
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