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showing 10 items of 16837 documents

Possible association between obesity and periodontitis in patients with Down syndrome

2017

Background The present study was carried out to evaluate the possible association between obesity and periodontitis in patients with DS, and to explore which measure of obesity is most closely correlated to periodontitis. Material and Methods A prospective observational study was made to determine whether obesity is related to periodontal disease in patients with DS. The anthropometric variables were body height and weight, which were used to calculate BMI and stratify the patients into three categories: < 25(normal weight), 25-29.9 (overweight) and ≥ 30.0 kg/m2 (obese). Waist circumference and hip circumference in turn was recorded as the greatest circumference at the level of the buttocks…

0301 basic medicineAdultMalemedicine.medical_specialtyobesityWaistAdolescentDown syndromeperiodontal diseaseContext (language use)Overweight03 medical and health sciencesYoung Adult0302 clinical medicineInternal medicineBayesian multivariate linear regressionmedicineHumansObesityProspective StudiesProspective cohort studyPeriodontitisGeneral DentistryPeriodontitis030109 nutrition & dieteticsbusiness.industryResearchnutritional and metabolic diseases030206 dentistryAnthropometryMiddle Aged:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseMedically compromised patients in DentistryObesityOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASSurgeryFemalemedicine.symptomDown Syndromebusiness
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Molecular and clinical studies in five index cases with novel mutations in the GLA gene

2016

Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of vascular endothelium. It consequently causes a cellular and microvascular dysfunction. In this paper, we described five novel mutations in the GLA gene, related to absent enzymatic activity and typical manifestations of Fabry disease. We identified three mutations (c.846_847delTC, p.E…

0301 basic medicineAdultMalep.R227Pnovel moutationAdolescentc.639 + 5G > TMutation MissenseBiologyLeft ventricular hypertrophy03 medical and health sciencesExonYoung Adult0302 clinical medicineSettore BIO/13 - Biologia ApplicataGeneticsmedicinefabry; novel moutationMissense mutationAlpha-galactosidase AHumansPoint MutationCornea verticillataGenetic Predisposition to DiseaseChildfabryGLA genec.846_847delTCGeneticsAlpha-galactosidasePoint mutationFabry disease; Alpha-galactosidase A; c.846_847delTC; p.E341X; p.C382X; p.R227P; c.639 + 5G > Tp.E341XGeneral MedicineMiddle Agedmedicine.diseaseMolecular biologyFabry diseaseStop codon030104 developmental biologyp.C382Xalpha-Galactosidasebiology.proteinFabry DiseaseFemalemedicine.symptom030217 neurology & neurosurgery
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Morphometric and kinematic sperm subpopulations in split ejaculates of normozoospermic men

2016

This study was designed to analyze the sperm kinematic and morphometric subpopulations in the different fractions of the ejaculate in normozoospermic men. Ejaculates from eight normozoospermic men were collected by masturbation in three fractions after 3-5 days of sexual abstinence. Analyses of sperm motility by computer-assisted sperm analysis (CASA-Mot), and of sperm morphometry by computer-assisted sperm morphometry analysis (CASA-Morph) using fluorescence were performed. Clustering and discriminant procedures were performed to identify sperm subpopulations in the kinematic and morphometric data obtained. Clustering procedures resulted in the classification of spermatozoa into three kine…

0301 basic medicineAdultMalesperm morphometry by computer-assisted sperm morphometry analysisendocrine systemsplit ejaculateUrologyKinematicsInvited Original ArticleBiologylcsh:RC870-923Andrology03 medical and health sciencesYoung Adult0302 clinical medicinemanHumansCell ShapeSperm motilityreproductive and urinary physiology030219 obstetrics & reproductive medicineurogenital systemGeneral Medicineman; sperm morphometry by computer-assisted sperm morphometry analysis; sperm motility by computer-assisted sperm analysis; sperm subpopulations; split ejaculatelcsh:Diseases of the genitourinary system. UrologySpermSpermatozoaMotile spermatozoaSemen Analysis030104 developmental biologysperm motility by computer-assisted sperm analysisSperm Motilitysperm subpopulationsAsian Journal of Andrology
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Arrangement of myofibroblastic and smooth muscle-like cells in superficial peritoneal endometriosis and a possible role of transforming growth factor…

2018

Purpose: Superficial peritoneal endometriotic (pEM) lesions are composed of endometrial glands and stroma, in addition to a third component—myofibroblasts and smooth muscles (SM)-like cells. The latter develops secondary to a metaplasia. In this study, we characterised the third component cells in pEM according to differentiation markers in different micro-compartments. Furthermore, a possible effect of TGFβ1 on myofibroblastic metaplasia in endometriotic epithelial cells was studied. Methods: Seventy-six premenopausal patients were included. Peritoneal biopsies were excised from EM patients (n = 23), unaffected peritoneum (peritoneum from EM patients but without EM components, n = 5/23) an…

0301 basic medicineAdultPathologymedicine.medical_specialtyCalponinEndometriosisPeritoneal DiseasesTransforming Growth Factor beta103 medical and health sciences0302 clinical medicineStromaPeritoneumMetaplasiamedicineHumansEndometriosiMyofibroblastsMyofibroblastMetaplasia030219 obstetrics & reproductive medicinebiologybusiness.industryPeritoneal endometriosiPeritoneal fluidTGFβ1Obstetrics and GynecologyCell DifferentiationMuscle SmoothGeneral MedicineTransforming growth factor beta030104 developmental biologymedicine.anatomical_structurePeritoneal Diseasebiology.proteinSmooth muscle-like cellDesminFemalemedicine.symptomPeritoneumbusinessMyofibroblastMyofibroblastic metaplasiaHumanArchives of gynecology and obstetrics
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Severe pre-eclampsia is associated with alterations in cytotrophoblasts of the smooth chorion.

2016

Pre-eclampsia (PE), which affects ∼8% of first pregnancies, is associated with faulty placentation. Extravillous cytotrophoblasts (CTBs) fail to differentiate properly, contributing to shallow uterine invasion and deficient spiral artery remodeling. We studied the effects of severe PE (sPE) on the smooth chorion portion of the fetal membranes. The results showed a significant expansion of the CTB layer. The cells displayed enhanced expression of stage-specific antigens that extravillous CTBs normally upregulate as they exit the placenta. Transcriptomics revealed the dysregulated expression of many genes (e.g. placental proteins, markers of oxidative stress). We confirmed an sPE-related incr…

0301 basic medicineAdultSpiral arteryTranscription GeneticPlacentaHuman DevelopmentCTBSExtraembryonic MembranesBiology210Andrology03 medical and health sciences0302 clinical medicineDownregulation and upregulationPre-EclampsiaPregnancyPlacentamedicineHumansPregnancy-Associated Plasma Protein-AMolecular BiologyCytotrophoblastPAPPA1Cell ProliferationFetus030219 obstetrics & reproductive medicineCytotrophoblastPlacentationGene Expression Regulation DevelopmentalPreterm birthChorionPlacentationTrophoblastsOxidative Stress030104 developmental biologymedicine.anatomical_structureImmunologyembryonic structuresKeratinsFemaleCytotrophoblastsTranscriptomeDevelopmental BiologyProtein BindingHumanDevelopment (Cambridge, England)
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Kinetics of the early development of uniparental human haploid embryos

2016

Objective: To describe morphokinetically the early development of human haploid parthenotes and androgenotes and to compare them with euploid embryos. Design: Experimental study of kinetics. Setting: University-affiliated private fertility center. Patient(s): Experimental haploid parthenotes and androgenotes. Intervention(s): Kinetic study of early development (up to eight cells) of 8 parthenotes, 10 androgenotes, and 20 euploid embryos. Main Outcome Measure(s): Timing of the first seven cleavages determined according to embryo origin, then calculation of the duration of the second and third cell cycles (cc2 and cc3) of whole embryos and individual cells. Result(s): Parthenotes and androgen…

0301 basic medicineAdultanimal structuresAdolescentmedicine.medical_treatmentEmbryonic DevelopmentBiologyHaploidyIntracytoplasmic sperm injectionAndrology03 medical and health sciencesYoung Adult0302 clinical medicinemedicineHumansSperm Injections IntracytoplasmichumanGenetics030219 obstetrics & reproductive medicineOutcome measuresObstetrics and GynecologyEmbryoOocyte activationAndrogenoteAneuploidyKineticshaploid030104 developmental biologyReproductive Medicinemorphokineticparthenoteembryonic structuresPloidy
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Novel noninvasive embryo selection algorithm combining time-lapse morphokinetics and oxidative status of the spent embryo culture medium.

2019

Objective To develop a noninvasive embryo selection algorithm consisting of time-lapse morphokinetics and the oxidative status of the spent embryo culture medium determined using the Thermochemiluminescence (TCL) Analyzer. Design Retrospective cohort. Setting Not applicable. Patient(s) From women participating in the oocyte donation program, data from 505 samples of spent embryo culture media samples from 292 intracytoplasmic sperm injection cycles. Intervention(s) None. Main Outcome Measure(s) Morphokinetic parameters assessed during incubation in the time-lapse system Embryoscope. Oxidative parameters (H1sm, H2sm, and H3sm) from the spent culture medium on day 5 of incubation measured usi…

0301 basic medicineAdultanimal structuresmedicine.medical_treatmentOxidative phosphorylationBiologyTime-Lapse ImagingIntracytoplasmic sperm injectionAndrologyCohort StudiesEmbryo Culture Techniques03 medical and health sciences0302 clinical medicineHuman fertilizationPregnancymedicineHumansIncubationRetrospective StudiesPregnancy030219 obstetrics & reproductive medicineObstetrics and GynecologyEmbryo cultureEmbryomedicine.diseaseEmbryo TransferCulture MediaKineticsOxidative Stress030104 developmental biologyReproductive Medicineembryonic structuresFemaleEmbryo qualityAlgorithmsFertility and sterility
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Diabetic thoracic radiculopathy: a case of a young woman with clinical improvement following immunotherapy.

2020

Thoracic radiculopathy is a rare cause of thoracic-abdominal or abdominal pain in subjects with poorly controlled diabetes. We present a case of a young woman with type I diabetes and a severe abdominal pain in both lower quadrants. An extensive diagnostic gastroenterological and gynaecological workup did not disclose abnormalities. Electromyography revealed an initial polyneuropathy and significant neurogenic abnormalities in the T10-T12 paravertebral muscles. Following the hypothesis that the radiculopathy-related abdominal pain might have an immuno-mediated pathogenesis, the patient underwent a complex trial of immunotherapy, which was accompanied by a sustained improvement over months t…

0301 basic medicineAdultmedicine.medical_specialtyAbdominal painmedicine.medical_treatmentElectromyography030105 genetics & heredityThoracic VertebraePathogenesis03 medical and health sciences0302 clinical medicineFull recoveryRare DiseaseDiabetes mellitusmedicineHumansRadiculopathymedicine.diagnostic_testbusiness.industryElectromyographyMusclesImmunoglobulins IntravenousGeneral MedicineImmunotherapymedicine.diseaseSurgeryAbdominal PainDiabetes Mellitus Type 1Treatment OutcomeFemaleImmunotherapymedicine.symptombusinessPolyneuropathy030217 neurology & neurosurgeryDiabetic thoracic radiculopathyBMJ case reports
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Ovarian stimulation for oocyte vitrification does not modify disease-free survival and overall survival rates in patients with early breast cancer

2019

Research question: Does ovarian stimulation for oocyte vitrification affect disease-free survival and overall survival rates in women with early breast cancer? Design: This cohort study included 259 patients with early breast cancer; 148 patients underwent ovarian stimulation, whereas 111 patients did not. Patients were treated between January 2008 and December 2016. To calculate the disease-free survival time and overall survival rate, the time of definitive surgery was defined as the starting point. The follow-up was conducted up to 5 years. Results: Exposed and non-exposed groups were comparable in tumour, node and metastases classification, Nottingham grade, hormonal receptor status, tu…

0301 basic medicineAdultmedicine.medical_specialtyAdolescentDisease-free survivalStimulationBreast NeoplasmsKaplan-Meier EstimateOverall survival rateGastroenterologyDisease-Free Survival03 medical and health sciencesYoung Adult0302 clinical medicineBreast cancerBreast cancerOvulation InductionInternal medicinemedicineHumansFertility preservationProspective StudiesStage (cooking)Neoplasm MetastasisFertility preservationRetrospective StudiesCryopreservation030219 obstetrics & reproductive medicinebusiness.industryObstetrics and GynecologyFertility PreservationHistologymedicine.diseaseVitrificationConfidence intervalSurvival Rate030104 developmental biologyTreatment OutcomeReproductive MedicineOocytesFemaleOvarian stimulationNeoplasm Recurrence LocalbusinessDevelopmental BiologyCohort studyHormoneFollow-Up Studies
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Associations between neuropsychological performance and appetite-regulating hormones in anorexia nervosa and healthy controls: Ghrelin's putative rol…

2019

Anorexia nervosa (AN) is a severe eating disorder accompanied by alterations in endocrinological circuits and deficits in neuropsychological performance. In this study, a series of appetite-regulating hormones (ghrelin, leptin, cholecystokinin, PYY, adiponectin, and visfatin) were measured under fasting conditions in female patients with AN and female healthy controls. All of the participants also underwent a battery of neuropsychological assessment [namely the Iowa Gambling Task (IGT), the Wisconsin Card Sorting Test (WCST), and the Stroop Color and Word Test (SCWT)]. As the main finding, we found that higher ghrelin levels predict better performance in the IGT. Ghrelin may be a putative m…

0301 basic medicineAdultmedicine.medical_specialtyAnorexia Nervosamedia_common.quotation_subjectDecision MakingAppetite030209 endocrinology & metabolismNeuropsychological TestsBiochemistryModels BiologicalCohort Studies03 medical and health sciencesYoung Adult0302 clinical medicineEndocrinologyWisconsin Card Sorting TestInternal medicineAppetite regulationmedicineHumansNeuropsychological assessmentMolecular Biologymedia_commonmedicine.diagnostic_testbusiness.industryLeptindigestive oral and skin physiologyAppetiteAnorexia nervosaIowa gambling taskNeuropsychological performanceGhrelin030104 developmental biologyEndocrinologyAnorexia nervosa (differential diagnoses)Case-Control StudiesGhrelinbusinesshormones hormone substitutes and hormone antagonistsStroop effectDecision-making
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