Search results for "EED"

showing 10 items of 5952 documents

Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report.

2008

Background Paragangliomas of the head and neck are rare, mostly benign tumors. Approximately 10% to 15% of paragangliomas are caused by mutations in the succinate dehydrogenase (SDH) genes B, C, or D. These are often multifocal as part of paraganglioma syndromes and hormone secreting, and malignant particularly associated with mutations in SDHB. Methods and Results A 29-year-old man was seen with recurrent paraganglioma. The patient's father reportedly suffered from bilateral carotid body tumors. Imaging studies showed metastases in both lungs and the liver. There was no increased hormone production by the tumor. Sequence analysis of the SDH genes revealed a novel C to T nonsense mutation i…

AdultMalePathologymedicine.medical_specialtySDHBNonsense mutationmedicine.disease_causeRisk AssessmentSkull Base NeoplasmsPheochromocytomaParagangliomaTreatment RefusalGermline mutationParagangliomamedicineMalignant ParagangliomaHumansGenetic Predisposition to DiseaseGerm-Line MutationNeoplasm StagingMutationbusiness.industryBiopsy Needlemedicine.diseaseImmunohistochemistryPedigreeSuccinate DehydrogenaseOtorhinolaryngologyPositron-Emission TomographySDHDbusinessHeadneck
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Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Ree…

2021

The term "cutaneous lymphadenoma" was coined in this journal for an unusual lymphoepithelial cutaneous adnexal neoplasm, possibly with immature pilosebaceous differentiation. Some authors further proposed that cutaneous lymphadenoma was an adamantinoid trichoblastoma. However, although a hair follicle differentiation is widely accepted, the fact that this is a lymphoepithelial tumor is not appropriately explained by the trichoblastoma hypothesis. Our goal was to further clarify the phenotypic and genotypic features of cutaneous lymphadenoma in a series of 11 cases. Histologically, a lobular architecture surrounded by a dense fibrous stroma was present in all cases. The lobules were composed…

AdultMalePathologymedicine.medical_specialtySkin NeoplasmsCD30EGFRDNA Mutational Analysisadamantinoid trichoblastomaGene mutationBiologyStem cell markerT-Lymphocytes RegulatoryPathology and Forensic MedicineLymphocytes Tumor-Infiltratingandrogen receptormedicineBiomarkers TumorHumansReceptor Notch1Reed-Sternberg CellsAgedNotch1Jagged-1cutaneous lymphadenomaHigh-Throughput Nucleotide SequencingEpithelial CellsOriginal ArticlesMiddle Agedmedicine.diseaseHair follicleAdenolymphomaImmunohistochemistryAndrogen receptorErbB ReceptorsTrichoblastomamedicine.anatomical_structureReceptors AndrogenMutationIntraepithelial lymphocyteSurgeryFemaleAnatomyHair FollicleImmunostainingThe American journal of surgical pathology
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Minilaparoscopy-guided spleen biopsy in systemic disease with splenomegaly of unknown origin.

2002

With the advent of a minimally invasive laparoscopy technique, the advantages of diagnostic laparoscopy are being rediscovered. We report here on four patients with systemic disease of unknown origin and splenomegaly, in whom minilaparoscopy-guided splenic biopsy yielded a definitive diagnosis. Four patients with unclear systemic disease were studied using diagnostic minilaparoscopy and guided spleen biopsy, after failure of diagnostic work-up. Minilaparoscopic spleen biopsy revealed the diagnosis of a B-cell non-Hodgkin's lymphoma in two cases. In one patient, who had a history of Still's disease, the spleen biopsy showed granulocytic infiltration in the spleen typical of an acute episode …

AdultMalePathologymedicine.medical_specialtySystemic diseaseAdolescentArgon plasma coagulationStill DiseaseSpleenBiopsyMedicineHumansMinimally Invasive Surgical ProceduresLaparoscopyFibrin glueUltrasonographyAcquired Immunodeficiency Syndromemedicine.diagnostic_testbusiness.industryLymphoma Non-HodgkinBiopsy NeedleGastroenterologyMiddle Agedmedicine.diseaseHodgkin DiseaseArthritis JuvenileLymphomamedicine.anatomical_structureSplenomegalyFemaleLaparoscopybusinessSpleenEndoscopy
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Flow cytometric DNA analysis of hepatic tumours on ultrasound-guided fine-needle aspirates

1992

A study was performed on a nonconsecutive series of 51 patients in order to assess the feasibility, reliability, and usefulness of flow cytometric (FCM) DNA analysis of samples obtained from benign and malignant hepatic tumours by means of ultrasound-guided fine-needle aspiration (UG-FNA). Cytological and often histological confirmation of the nature of the lesion was obtained in all cases from an expert pathologist. For FCM DNA analysis in 32 cases, it was also possible to use samples obtained at surgery from the actual tumours. There were no post UG-FNA complications, either early or late. It was possible to perform FCM DNA analysis on 6/7 (85.7%) of the benign tumour aspirates and all 44…

AdultMalePathologymedicine.medical_specialtymedicine.medical_treatmentAneuploidyBenign tumourschemistry.chemical_compoundmedicineHumansUltrasonicsHepatic tumoursAgedUltrasonographyAged 80 and overChemotherapybusiness.industryBiopsy NeedleLiver NeoplasmsDNA NeoplasmGeneral MedicineSmall tumoursMiddle AgedAneuploidyFlow Cytometrymedicine.diseaseDiploidyUltrasound guidedOncologychemistryFemaleSurgeryUltrasonographybusinessDNAJournal of Surgical Oncology
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Associations between infant and maternal characteristics measured at child age 5 months and maternal feeding styles and practices up to child age two…

2022

Facilitating positive feeding practices from infancy may be an important strategy to prevent childhood overweight and obesity. Since the feeding situation early in life constitutes a bidirectional relationship, it is important to understand the impact of both maternal and infant characteristics on maternal feeding practices to intervene in a customized and tailored way. Few studies have concurrently examined associations between maternal and infant characteristics in relation to early maternal feeding practices. The aim of the present study was to explore potential associations between infant and maternal characteristics measured at child age five months, and maternal feeding styles and pra…

AdultMalePediatric ObesityChildhood ObesityPhysiologyMaternal HealthScienceParenting BehaviorEmotionsSocial SciencesChild BehaviorMothersPediatricsVDP::Medisinske Fag: 700::Helsefag: 800::Ernæring: 811FamiliesSurveys and QuestionnairesMedicine and Health SciencesPsychologyHumansObesityMaternal BehaviorChildrenNutritionBehaviorMultidisciplinaryParentingNorwayBody WeightQRBiology and Life SciencesInfantFeeding BehaviorOverweightDietBreast FeedingCross-Sectional StudiesPhysiological ParametersAge GroupsFoodChild PreschoolPeople and PlacesWomen's HealthMedicinePopulation GroupingsFemaleNeonatologyInfantsResearch ArticlePLoS ONE
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Food-related sensory experience from birth through weaning: contrasted patterns in two nearby European regions

2007

International audience; This study describes infant feeding practices among mothers from two European regions from the perspective of early sensory experiences. Two groups of mothers, one in Dijon , France (n=139), the other in Aalen , Germany (n=157) with infants aged 4–9 months were interviewed using a structured questionnaire. Clear between- and within-group differences in weaning practices were found, particularly with respect to breastfeeding duration (Aalen>Dijon) and exposure to flavour variety early in weaning (Dijon>Aalen). By 4 months, 65% of infants in Dijon and 20% in Aalen, had received their first non-milk, solid foods. Before beginning to wean, 39% of mothers in Dijon offered…

AdultMalePediatricsmedicine.medical_specialty030309 nutrition & dieteticsVARIETYEARLY EXPERIENCEBreastfeedingEUROPEAN REGIONSSensationWeaningBreast milk03 medical and health sciencesFood Preferences0302 clinical medicineFeeding behaviorFLAVOUR PERCEPTIONGermanySurveys and QuestionnairesVegetablesmedicineWeaningHumans030212 general & internal medicineInfant feedingGeneral PsychologyComputingMilieux_MISCELLANEOUS2. Zero hunger0303 health sciencesNutrition and Dieteticsbusiness.industry[SCCO.NEUR]Cognitive science/NeuroscienceBREASTFEEDINGInfantBreast FeedingNON-MILK FOODSSolid foodTaste[ SCCO.NEUR ] Cognitive science/NeuroscienceFemaleInfant FoodFrancebusinessBreast feeding[SDV.AEN]Life Sciences [q-bio]/Food and NutritionDemography
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Obesity after childhood craniopharyngioma--German multicenter study on pre-operative risk factors and quality of life.

2001

Craniopharyngiomas are tumorous embryogenic malformations. As the survival rate after craniopharyngioma is high (92 %), prognosis and quality of life (QoL) in survivors mainly depend on adverse late effects such as obesity.We analyzed 214 children and adolescents with craniopharyngioma. The records of 185 patients (86 %) were available for retrospective analysis of weight profiles and risk factors for obesity. Quality of life (QoL) was measured in 145 patients by the Fertigkeitenskala Münster/Heidelberg score (FMH) and in 77 patients by PEDQOL questionnaire.Eighty-two of 185 patients (44 %) developed severe obesity (body mass index [BMI]3 SD). Obese patients were compared with 79 patients (…

AdultMalePediatricsmedicine.medical_specialtyAdolescent030209 endocrinology & metabolismWeight GainFeeding and Eating Disorders03 medical and health sciencesCraniopharyngioma0302 clinical medicineQuality of lifeRisk FactorsGermanymedicineHumansGenetic Predisposition to DiseasePituitary NeoplasmsRisk factorChildSurvival rateRetrospective Studies2. Zero hungerbusiness.industryIncidenceChildhood CraniopharyngiomaInfant NewbornInfantOdds ratiomedicine.diseasePrognosisCraniopharyngioma3. Good healthObesity MorbidAustriaChild PreschoolPediatrics Perinatology and Child HealthQuality of LifeFemalemedicine.symptombusinessWeight gainBody mass index030217 neurology & neurosurgerySwitzerlandFollow-Up StudiesKlinische Padiatrie
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Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study

2020

<b><i>Background:</i></b> Only few data on dietary management of adult phenylketonuria (PKU) patients are published. <b><i>Objectives:</i></b> This study aimed to assess living situation, dietary practices, and health conditions of early-treated adult PKU patients. <b><i>Methods:</i></b> A total of 183 early-treated PKU patients ≥18 years from 8 German metabolic centers received access to an online survey, containing 91 questions on sociodemographic data, dietary habits, and health conditions. <b><i>Results:</i></b> 144/183 patients (66% females) completed the questionnaire. Compared with German …

AdultMalePediatricsmedicine.medical_specialtyAdolescentCross-sectional studyHealth StatusPhenylalanineMedicine (miscellaneous)Living situationProfessional statusYoung AdultQuality of lifePhenylketonuriasSurveys and QuestionnairesActivities of Daily LivingDiet Protein-RestrictedPrevalenceHumansChildbirthMedicineAmino acid intakeAmino AcidsEveryday lifeNutrition and DieteticsDepressionbusiness.industryDietary managementFeeding BehaviorMiddle AgedCross-Sectional StudiesDietary SupplementsQuality of LifePatient ComplianceFemalebusinessAnnals of Nutrition and Metabolism
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Factors associated with exclusive breast-feeding and breast-feeding in Norway

2010

Objective: To identify factors associated with exclusive breast-feeding and breastfeeding during the first year of life among Norwegian infants. Design: Data on breast-feeding practices were collected by a semi-quantitative FFQ. Setting: In 2006–2007 about 3000 infants were invited to participate in a populationbased prospective cohort study in Norway. Subjects: A total of 1490 mothers/infants participated at both 6 and 12 months of age. Results: Exclusive breast-feeding at 4 months was associated with parental education, parity and geographical region, while exclusive breast-feeding at 5?5 months was associated only with maternal age. At both ages, a negative association with exclusive bre…

AdultMalePediatricsmedicine.medical_specialtyBirth weightBreastfeedingMothersMedicine (miscellaneous)Day careNorwegianCohort StudiesRisk FactorsSurveys and QuestionnairesBirth WeightHumansMedicineProspective StudiesProspective cohort studyskin and connective tissue diseasesNutrition and DieteticsNorwaybusiness.industrySmokingAge FactorsInfant NewbornPublic Health Environmental and Occupational HealthInfantChild Day Care Centerslanguage.human_languageBreast FeedingSocioeconomic FactorslanguageEducational StatusMarital statusFemaleInfant FoodbusinessBreast feedingCohort studyDemography
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Breastfeeding and experience with variety early in weaning increase infants' acceptance of new foods for up to two months.

2008

International audience; BACKGROUND & AIMS: Previous studies showed that (1) breastfeeding and (2) higher food variety early in weaning can increase acceptance of new foods for the next few days. Here we measure, in two European regions, effects of breast or formula feeding and experience with different levels of vegetable variety early in weaning on new food acceptance during two months following the start of weaning. METHODS: Breast- or formula-fed infants received their first vegetable (carrot pur? and, over the next 9 days, either carrots every day; 3 vegetables changed every 3 days; or 3 vegetables changed daily. On the 12th and 23rd days they received new vegetable pur?, zucchini-tomat…

AdultMalePediatricsmedicine.medical_specialtyFood intake030309 nutrition & dieteticsBreastfeedingMothersCritical Care and Intensive Care Medicine03 medical and health sciencesFood Preferences0302 clinical medicineAnimal scienceFormula feedingFOOD ACCEPTANCEVegetablesFLAVOUR VARIETYWeaningMedicineHumans030212 general & internal medicine2. Zero hunger0303 health sciencesNutrition and Dieteticsbusiness.industry[SCCO.NEUR]Cognitive science/NeuroscienceBREASTFEEDINGfood and beveragesFood acceptanceInfantCOMPLEMENTARY FEEDINGInfant FormulaBreast FeedingInfant formula[ SCCO.NEUR ] Cognitive science/NeuroscienceFish <Actinopterygii>FemaleInfant FoodbusinessBreast feedingClinical nutrition (Edinburgh, Scotland)
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