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showing 10 items of 4449 documents

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia

2019

International audience; Focal dermal hypoplasia (FDH, Goltz syndrome, MIM: #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with considerable variation in the clinical features. FDH is transmitted as an X-linked dominant trait and is caused by mutations in PORCN. In males, hemizygous PORCN mutations are lethal in utero. Around 300 cases have been reported in the literature to date. About 10% of them are males presenting either Klinefelter syndrome (karyotype 47, XXY) or mosaicism of a postzygotic mutation. Here we describe four cases of women with typical features of FDH, in whom a PORCN mutation was found in DNA from affected cutaneous tissue b…

AdultZygoteDNA Mutational AnalysisDermatologyBiologyPostzygotic mutationmedicine.disease_causePORCNYoung Adult030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicinemedicineHumansMissense mutationGoltz syndromeSkinGeneticsMutationMosaicismMouth MucosaGenetic disorderHigh-Throughput Nucleotide SequencingMembrane Proteinscutaneous mosaicismKaryotypemedicine.diseaseFocal dermal hypoplasia3. Good healthPORCNfocal dermal hypoplasiaFemaleKlinefelter syndromeAcyltransferases[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/DermatologyBritish Journal of Dermatology
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Lymphoscintigraphic findings in patients with lipedema.

2018

Introduction: Lipedema is a syndrome that is characterised by edema, an accumulation of fat, pain and haematomas in the lower limbs that principally affects women. Diagnosis is currently based on clinical criteria, since there is no accurate diagnostic imaging for the condition. The aim of our study was to describe the lymphoscintigraphic findings in patients with lipedema. Material and method: A prospective cohort study of women with clinical criteria of lipedema who underwent lymphoscintigraphy. Two independent nuclear physicians described and classified the lymphoscintigraphy findings in different grades of severity, according to the migration and distribution of the radiopharmaceutical.…

Adultmedicine.medical_specialtyAdolescentCohort Studies030207 dermatology & venereal diseases03 medical and health sciencesYoung Adult0302 clinical medicineEdemamedicineEdemaHumansIn patientLymphedemaStage (cooking)Prospective cohort studyGeneral Environmental ScienceAgedAged 80 and overbusiness.industryLipedemaGeneral EngineeringLipoedemaMiddle Agedmedicine.diseaseLymphedema030220 oncology & carcinogenesisGeneral Earth and Planetary SciencesFemaleRadiologymedicine.symptombusinessBody mass indexLymphoscintigraphyRevista espanola de medicina nuclear e imagen molecular
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Clinical validation of a virtual environment for normalizing eating patterns in eating disorders

2013

The purpose of the present study was to examine the clinical validation of a Virtual Reality Environment (VRE) designed to normalize eating patterns in Eating Disorders (ED). The efficacy of VR in eliciting emotions, sense of presence and reality of the VRE were explored in 22 ED patients and 37 healthy eating individuals. The VRE (non-immersive) consisted of a kitchen room where participants had to eat a virtual pizza. In order to assess the sense of presence and reality produced by the VRE, participants answered seven questions with a Likert scale (0-10) during the experience, and then filled out the Reality Judgment and Presence Questionnaire (RJPQ) and ITC-Sense of Presence Inventory (I…

Adultmedicine.medical_specialtyAdolescentEcological validitylcsh:RC435-571Food habitsEmotionsHealthy eatingVirtual realitycomputer.software_genreDysphoriaLikert scaleFeeding and Eating DisordersUser-Computer InterfaceBehavior Therapylcsh:PsychiatrymedicineHumansBulímiaBulimiaPsychiatryTrastorns de la conducta alimentàriaHàbits alimentarisFeeding Behaviorbiochemical phenomena metabolism and nutritionmedicine.diseasebacterial infections and mycosesPsychiatry and Mental healthClinical PsychologyEating disordersVirtual machinePhysical spaceEating disordersFemalemedicine.symptomPsychologycomputer
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Tuberous Breast

2017

Background Tuberous breast (TB) is a rare congenital deformity, which may appear in different clinical forms representing various degrees of a single pathological entity. The worst cases are characterized by severe hypoplasia. Following a detailed analysis of the available relevant literature and a significant number of treated cases, in this article, the authors propose a new classification, with the aim of summarizing and simplifying a more intuitive categorization of the malformation, considering all the clinical aspects and including all types of TBs, even the minor ones, thus allowing a more immediate diagnosis and surgical planning. Methods Between September 2006 and December 2015, 78…

Adultmedicine.medical_specialtyAdolescentMammaplastyBreast surgerymedicine.medical_treatmentSettore MED/19 - Chirurgia Plasticatuberous breast030230 surgerySurgical planningFollow-Up Studielaw.inventionBreast DiseasesYoung Adult030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineRetrospective StudielawDeformitymedicineHumanstuberous breast correctionBreastRetrospective Studiesbusiness.industryGeneral surgeryBreast Diseasebreast malformationbreast deformityRetrospective cohort studymedicine.diseasetuberous breast classificationHypoplasiaTreatment OutcomeMammaplastyBreast implantFemaleSurgeryObservational studymedicine.symptombusinessHumanFollow-Up StudiesAnnals of Plastic Surgery
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Effectiveness of cognitive behavioral therapy supported by virtual reality in the treatment of body image in eating disorders: One year follow-up

2013

Body image disturbance is a significant maintenance and prognosis factor in eating disorders. Hence, existing eating disorder treatments can benefit from direct intervention in patients' body image. No controlled studies have yet compared eating disorder treatments with and without a treatment component centered on body image. This paper includes a controlled study comparing Cognitive Behavioral Treatment (CBT) for eating disorders with and without a component for body image treatment using Virtual Reality techniques. Thirty-four participants diagnosed with eating disorders were evaluated and treated. The clinical improvement was analyzed from statistical and clinical points of view. Result…

Adultmedicine.medical_specialtyAdolescentmedicine.medical_treatmentAnorexialaw.inventionFeeding and Eating DisordersYoung AdultRandomized controlled triallawIntervention (counseling)Body ImagemedicineHumansBiological PsychiatryCognitive Behavioral TherapyBulimia nervosaVirtual Reality Exposure TherapyCognitionmedicine.diseasePersonality disordersCognitive behavioral therapyPsychiatry and Mental healthEating disordersTreatment OutcomePhysical therapyFemalemedicine.symptomPsychologyAttitude to HealthFollow-Up StudiesClinical psychologyPsychiatry Research
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A comparison of the effectiveness of azelaic and pyruvic acid peels in the treatment of female adult acne: a randomized controlled trial

2020

AbstractChemical peels are widely used as therapeutic agents in dermatology and cosmetology. This study aims to explore the differences in the effectiveness of azelaic and pyruvic acid peels in the treatment of acne vulgaris. Eligibility criteria for participants were: female gender, 18–25 years of age, no dermatological treatment within the last 12 months and mild to moderate papulopustular acne. We treated 120 young women (with a mean age of 22 years old) with six peeling sessions at 2-week intervals. In the parallel clinical study design, one randomized group (n = 60, 50%) was treated using azelaic acid (AA), whereas the second group participated in pyruvic acid (PA) sessions. We evaluat…

Adultmedicine.medical_specialtyAzelaic acidScienceDiseasesArticlelaw.inventionDesquamation030207 dermatology & venereal diseases03 medical and health scienceschemistry.chemical_compoundYoung Adult0302 clinical medicineRandomized controlled trialPapulopustularlawAcne VulgarisPyruvic AcidmedicineHumansDicarboxylic Acids030212 general & internal medicineAcneSkinAnalysis of VarianceMultidisciplinarybusiness.industryQRmedicine.diseaseDermatologySkin diseasesTreatment OutcomechemistryMedicineFemaleCosmetologyPyruvic acidmedicine.symptombusinessPorosityAfter treatmentmedicine.drugScientific Reports
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The CARe Burn Scale—Adult Form: Translation and linguistic validation into Finnish

2021

Abstract Background Burn injury can dramatically deteriorate health-related quality of life. Effective burn care may minimize the impact of the burn injury and ensure optimal functional outcome. This requires continuous improvement in burn care and assessment of treatment results. The aim of this study was to translate, culturally adapt and linguistically validate the CARe Burn Scale—Adult Form, a burn-specific patient-reported outcome measure, into Finnish. Methods The translation process followed the International Society for Pharmacoeconomics and Outcomes Research guidelines consisting of forward and backward translations, pilot-testing and cognitive debriefing interviews of five burn pa…

Adultmedicine.medical_specialtyBurn injuryPsychometricsCritical Care and Intensive Care MedicineLinguistic validation030207 dermatology & venereal diseases03 medical and health sciencesPharmacoeconomics0302 clinical medicineQuality of life (healthcare)Surveys and QuestionnairesmedicineFormerly Health & Social SciencesHumansTranslationsFinlandMedical educationbusiness.industryCentre for Appearance ResearchDebriefingReproducibility of ResultsLinguistics030208 emergency & critical care medicineCognitionGeneral MedicineScale (social sciences)Quality of LifeEmergency MedicineSurgeryOutcomes researchBurnsbusinessBurns
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Treatment of cutaneous lupus erythematosus: current practice variations

2015

The treatment of cutaneous lupus erythematous (CLE) remains a challenge. Most of the therapeutic options used in CLE have not been tested in randomized controlled studies and to date no agent has been approved. Therefore, CLE treatment is mostly based on personal experience. To better characterize therapeutic habits among physicians treating CLE patients, a questionnaire-based study about various aspects of topical and systemic treatment for CLE has been performed. The questionnaire was distributed among CLE experts, mostly from Japan, the USA, and Europe. A total of 82 completed questionnaires were assessed. High-potent and potent corticosteroids as well as calcineurin inhibitors were the…

Adultmedicine.medical_specialtyCalcineurin InhibitorsDiseaseControlled studiesSystemic therapyAntimalarials030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineJapanRheumatologyAdrenal Cortex HormonesSurveys and QuestionnairesLupus Erythematosus CutaneousmedicineHumansPractice Patterns Physicians'Aged030203 arthritis & rheumatologybusiness.industryfungiTreatment optionsMiddle AgedDermatologyUnited StatesEuropeCalcineurinTreatment OutcomeCurrent practiceConcomitantImmunologyCutaneous Lupus ErythematosusbusinessLupus
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Discontinuation of teriflunomide and dimethyl fumarate in a large Italian multicentre population: a 24-month real-world experience

2019

Teriflunomide (TRF) and Dimethyl fumarate (DMF) are licensed drugs for relapsing-remitting Multiple Sclerosis (RRMS). We aimed to compare the rate and the time to discontinuation among persons with RRMS (pwRRMS), newly treated with TRF and DMF. A retrospective study on prospectively collected data was performed in nine tertiary MS centers, in Italy. The 24-month discontinuation rate in the two cohorts was the primary study outcome. We also assessed the time to discontinuation and reasons of therapy withdrawn. Discontinuation of TRF and DMF was defined as a gap of treatment ≥ 60 days. A cohort of 903 pwRRMS (316 on TRF and 587 on DMF) was analyzed. During 24 months of follow-up, pwRRMS on TR…

Adultmedicine.medical_specialtyDiscontinuation rateTime FactorsToluidinesPopulationHydroxybutyratesRelapsing-RemittingDimethyl fumarateMultiple sclerosis03 medical and health scienceschemistry.chemical_compound0302 clinical medicineMultiple Sclerosis Relapsing-RemittingInternal medicineTeriflunomideNitrilesTeriflunomidemedicineHumansMultiple sclerosi030212 general & internal medicineeducationRetrospective Studieseducation.field_of_studyDimethyl fumaratebusiness.industryProportional hazards modelMultiple sclerosisDimethyl fumarate; Discontinuation rate; Multiple sclerosis; Real-life; Teriflunomide; Neurology; Neurology (clinical)Real-lifeRetrospective cohort studyMiddle Agedmedicine.diseaseDiscontinuationchemistryItalyNeurologyCrotonatesCohortDimethyl fumarate; Discontinuation rate; Multiple sclerosis; Real-life; Teriflunomide; Adult; Crotonates; Dimethyl Fumarate; Follow-Up Studies; Humans; Immunosuppressive Agents; Italy; Middle Aged; Multiple Sclerosis Relapsing-Remitting; Retrospective Studies; Time Factors; ToluidinesNeurology (clinical)business030217 neurology & neurosurgeryImmunosuppressive AgentsFollow-Up Studies
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Extracorporeal circuit heparinization in selective low density lipoprotein apheresis: changes in patient hemostasis and low molecular weight heparin …

1993

Treatment by low density lipoprotein (LDL) apheresis using dextran sulfate columns (DSC) leads to hemostasis alterations with prolonged activated partial thromboplastin time (APTT) of more than 120 seconds. In order to explain this hypocoagulability, we studied hemostasis parameters both in patients and in the extracorporeal circulation (ECC). Hemostasis changes are first related to unfractionated heparin (UFH)—needed to avoid circuit coagulation—which leads to high residual heparinemia in the patient (more than 3 times the recommended level for therapeutic use). Second, the hypocoagulability is induced by a coagulation factor decrease (primarily factors V, VIH, and X) mainly due to an adso…

Adultmedicine.medical_specialtyExtracorporeal Circulationmedicine.drug_classLow molecular weight heparinHyperlipoproteinemia Type IIInternal medicinemedicineHumansHemostasismedicine.diagnostic_testbusiness.industryExtracorporeal circulationAnticoagulantDextran SulfateNadroparinHematologyGeneral MedicineHeparinMiddle AgedBlood Coagulation FactorsSurgeryLipoproteins LDLApheresisLDL apheresisHemostasisCardiologyBlood Component RemovalbusinessPartial thromboplastin timemedicine.drugJournal of clinical apheresis
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