Search results for "Rome"

showing 10 items of 12914 documents

Dysregulated genes and their functional pathways in luteinized granulosa cells from PCOS patients after cabergoline treatment

2018

Polycystic ovarian syndrome (PCOS) is a common reproductive disorder frequently associated with a substantial risk factor for ovarian hyperstimulation syndrome (OHSS). Dopamine receptor 2 (D2) agonists, like cabergoline (Cb2), have been used to reduce the OHSS risk. However, lutein granulosa cells (LGCs) from PCOS patients treated with Cb2 still show a deregulated dopaminergic tone (decreased D2 expression and low dopamine production) and increased vascularization compared to non-PCOS LGCs. Therefore, to understand the PCOS ovarian physiology, it is important to explore the mechanisms that underlie syndrome based on the therapeutic effects of Cb2. Here, LGCs from non-PCOS and PCOS patients …

0301 basic medicineAdultEmbryologymedicine.medical_specialtyendocrine systemCabergolineendocrine system diseasesOvarian hyperstimulation syndromeAKT103 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologyInternal medicineCabergolineLuteal CellsmedicineHumansErgolines030219 obstetrics & reproductive medicineGranulosa Cellsbusiness.industryDopaminergicOvaryObstetrics and Gynecologynutritional and metabolic diseasesCell Biologymedicine.diseasefemale genital diseases and pregnancy complicationsVascular endothelial growth factorVascular endothelial growth factor A030104 developmental biologyEndocrinologyReproductive MedicinechemistryGene Expression RegulationDopamine receptorDopaminergic synapseCase-Control StudiesDopamine AgonistsFemalebusinessTranscriptomeBiomarkersmedicine.drugPolycystic Ovary Syndrome
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A single preoperative pain neuroscience education: Is it an effective strategy for patients with carpal tunnel syndrome?

2019

Patients undergoing carpal tunnel release surgery may continue to experience pain despite the intervention. This symptom may be modulated by psychosocial factors including depression, catastrophic thinking, and kinesiophobia. Pain neuroscience education (PNE) has been found to be effective when combined with therapeutic exercise in patients with chronic pain, but this strategy has not been evaluated in patients with persistent hand pain. The findings of this study indicate that a single preoperative PNE session in combination with therapeutic exercise does not provide added benefits in comparison to standard preoperative care plus therapeutic exercise. Future studies should evaluate if pati…

0301 basic medicineAdultKinesiophobiaPreoperative care03 medical and health sciences0302 clinical medicineDouble-Blind MethodPatient Education as TopicIntervention (counseling)Preoperative CaremedicineCarpal tunnel releaseHumansCarpal tunnel syndromeDepression (differential diagnoses)Physical Therapy ModalitiesAgedbusiness.industryCatastrophizationChronic painNeurosciencesGeneral MedicineMiddle Agedmedicine.diseaseHandCarpal Tunnel SyndromeCombined Modality TherapyExercise Therapy030104 developmental biologyTreatment OutcomePhobic DisordersPreoperative PeriodFemaleChronic PainbusinessNeurosciencePsychosocial030217 neurology & neurosurgeryMedical hypotheses
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Rescuing Over-activated Microglia Restores Cognitive Performance in Juvenile Animals of the Dp(16) Mouse Model of Down Syndrome.

2020

Microglia are brain-resident immune cells and regulate mechanisms essential for cognitive functions. Down syndrome (DS), the most frequent cause of genetic intellectual disability, is caused by a supernumerary chromosome 21, containing also genes related to the immune system. In the hippocampus of the Dp(16) mouse model of DS and DS individuals, we found activated microglia, as assessed by their morphology; activation markers; and, for DS mice, electrophysiological profile. Accordingly, we found increased pro-inflammatory cytokine levels and altered interferon signaling in Dp(16) hippocampi. DS mice also showed decreased spine density and activity of hippocampal neurons and hippocampus-depe…

0301 basic medicineAdultMaleDown syndromeDendritic spinemedicine.medical_treatmentAminopyridinesMice TransgenicHippocampal formationHippocampus03 medical and health sciencesMice0302 clinical medicineImmune systemCognitionMedicineHippocampus (mythology)AnimalsHumansPyrrolesNeuroinflammationMicrogliabusiness.industryGeneral NeuroscienceAnti-Inflammatory Agents Non-SteroidalAge Factorsmedicine.disease3. Good healthMice Inbred C57BLDisease Models Animal030104 developmental biologymedicine.anatomical_structureCytokinenervous systemFemaleMicrogliaDown SyndromebusinessNeuroscience030217 neurology & neurosurgeryNeuron
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Intrathecal B-cell accumulation and axonal damage distinguish MRI-based benign from aggressive onset in MS.

2019

ObjectiveWe explored the incremental value of adding multiple disease activity biomarkers in CSF and serum for distinguishing MRI-based benign from aggressive MS in early disease course.MethodsNinety-three patients diagnosed with clinically isolated syndrome (CIS) or early MS were divided into 3 nonoverlapping severity groups defined by objective MRI criteria. Ninety-seven patients with noninflammatory neurologic disorders and 48 patients with other inflammatory neurologic diseases served as controls. Leukocyte subsets in the CSF were analyzed by flow cytometry. CSF neurofilament light chain (NfL) and chitinase-3-like protein 1 (CHI3L1) levels were measured by ELISA. Serum NfL levels were e…

0301 basic medicineAdultMalePathologymedicine.medical_specialtyAdolescent41medicine.medical_treatmentCHI3L1ArticleFlow cytometryCohort Studies03 medical and health sciencesYoung Adult0302 clinical medicineText miningMultiple Sclerosis Relapsing-RemittingNeurofilament ProteinsMedicineHumansB cellAgedCD20Aged 80 and overB-LymphocytesClinically isolated syndromebiologymedicine.diagnostic_testbusiness.industryMultiple sclerosisImmunotherapyMiddle Agedmedicine.diseaseMagnetic Resonance ImagingAxons030104 developmental biologymedicine.anatomical_structureCross-Sectional StudiesNeurologybiology.proteinDisease ProgressionFemaleNeurology (clinical)business030217 neurology & neurosurgeryDemyelinating DiseasesNeurology(R) neuroimmunologyneuroinflammation
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The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy

2019

BACKGROUND: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. The objective of this study was to reconstruct the pedigree of Italian dentatorubral-pallidoluysian atrophy familial cases describing their clinical features. METHODS: We investigated 6 apparently unrelated dentatorubral-pallidoluysian atrophy families comprising a total of 51 affected individuals: 13 patients were clinically examined, and for 38 patients clinical data were collected from clinical sources. The dentatorubral-pallidoluysian atrophy diagnosis was genetically confirmed in 18 patients. Genealogical data from historical archives were ana…

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentDiseaseNeuropsychological TestsWhite People03 medical and health sciencesEpilepsyYoung Adult0302 clinical medicineAtrophyTrinucleotide Repeatsdentatorubral-pallidoluysian atrophymedicineHumansFamilyATN1 geneChildFounder mutationAgedDentatorubral-pallidoluysian atrophyEpilepsybusiness.industrygenealogical methodMiddle Agedmedicine.diseaseMyoclonic Epilepsies ProgressivePedigree030104 developmental biologyfounder effectNeurologyCerebellar cognitive affective syndromeItalycerebellar cognitive-affective syndromeMutationFemaleNeurology (clinical)business030217 neurology & neurosurgeryFounder effect
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Clinical course of sly syndrome (mucopolysaccharidosis type VII).

2016

WOS: 000377110800007

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentMucopolysaccharidosisSly syndromeHepatosplenomegalyMetabolic disordersMucopolysaccharidosis VIIMedical and Health Sciences03 medical and health sciencesYoung Adult0302 clinical medicineHydrops fetalisSurveys and QuestionnairesmedicineGeneticsHumansMedical history1506Clinical geneticsFamily historyPreschoolChildGenetics (clinical)GlucuronidaseGenetics & Hereditybusiness.industryGenotype-Phenotype CorrelationsMucopolysaccharidosis VIIInfantEnzyme replacement therapyBiological Sciencesmedicine.diseaseLysosomal Storage Diseases030104 developmental biologyPhenotypeClinical genetics Genetics Metabolic disordersChild PreschoolFemalemedicine.symptombusiness030217 neurology & neurosurgeryMPS ; lysosomal storage disease ; β-glucuronidase
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Achados orais na síndrome de williams-beuren

2017

Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contr…

0301 basic medicineAdultMaleWilliams SyndromeSíndrome de Williams-BeurenPediatricsmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesHeart diseaseAdolescentAnomalias congénitasDiseaseOdontologiaCongenital abnormalities03 medical and health sciencesYoung Adult0302 clinical medicineQuality of lifeWilliams-Beuren syndromeIntellectual disabilitymedicineHumansAbnormalities Multiplecardiovascular diseasesYoung adultChildGeneral DentistryOral Medicine and Pathologybusiness.industryTooth AbnormalitiesResearch030206 dentistrymedicine.disease:CIENCIAS MÉDICAS [UNESCO]oral featuresDevelopmental disorderCaracterísticas orofaciaisstomatognathic diseases030104 developmental biologyOtorhinolaryngologyChild PreschoolUNESCO::CIENCIAS MÉDICASSurgeryFemaleWilliams syndromeMalocclusionbusinessMalocclusionMedicina oral, patologia oral y cirugia bucal
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Incidence of Stent Thrombosis after Endovascular Treatment of Iliofemoral or Caval Veins in Patients with the Postthrombotic Syndrome.

2019

Abstract Background Patients with postthrombotic syndrome (PTS) treated with stents are at risk of stent thrombosis (ST). The incidence of ST in the presence and absence of anticoagulation therapy (AT) is unknown. Risk factors are not well understood. Patients and Methods From the prospective Swiss Venous Stent registry, we conducted a subgroup analysis of 136 consecutive patients with PTS. Incidence of ST was estimated from duplex ultrasound or venography, and reported for the time on and off AT. Baseline, procedural, and follow-up data were evaluated to identify factors associated with ST. Results Median follow-up was 20 (interquartile range [IQR] 9–40) months. AT was stopped in 43 (32%) …

0301 basic medicineAdultMalemedicine.medical_specialty2720 HematologyVenographySubgroup analysis610 Medicine & healthVena Cava Inferior030204 cardiovascular system & hematologyIliac VeinPostthrombotic Syndrome03 medical and health sciences0302 clinical medicineFibrinolytic AgentsInterquartile rangeRisk FactorsmedicineAlloysHumansCumulative incidenceRegistries610 Medicine & healthStrokemedicine.diagnostic_testbusiness.industryIncidence (epidemiology)10031 Clinic for AngiologyIncidenceHazard ratioEndovascular ProceduresAnticoagulantsThrombosisHematologyPhlebographyFemoral VeinMiddle Agedmedicine.diseaseConfidence intervalSurgery030104 developmental biologyTreatment OutcomeFemaleStentsbusinessSwitzerlandFollow-Up StudiesThrombosis and haemostasis
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Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with cli…

2020

To evaluate the feasibility of acoustic radiation force impulse point shear wave elastography (ARFI-pSWE) of the liver and spleen in patients with Gaucher disease type 1 (GD1), and to assess correlations between organ stiffness and clinico-radiologic data, particularly the GD1 Severity Scoring System (GD-DS3).We retrospectively evaluated the results of ARFI-pSWE as measures of liver and spleen stiffness in 57 patients with GD1. The feasibility of the method was assessed. Correlations between elastography data and clinical data related to the metabolic syndrome, laboratory tests, and GD1-related clinico-radiologic data (bone marrow burden score, GD-DS3) were assessed.ARFI-pSWE provided relia…

0301 basic medicineAdultMalemedicine.medical_specialtyAdolescentEndocrinology Diabetes and MetabolismSpleenDisease030105 genetics & heredityImpulse (physics)BiochemistrySeverity of Illness Index03 medical and health sciencesYoung Adult0302 clinical medicineEndocrinologyGeneticsmedicineHumansIn patientAcoustic radiation forceChildMolecular BiologyAgedRetrospective StudiesGaucher Diseasemedicine.diagnostic_testbusiness.industryReproducibility of ResultsAcousticsMiddle Agedmedicine.diseasePrognosismedicine.anatomical_structureLiverChild PreschoolElasticity Imaging TechniquesFemaleElastographyBone marrowRadiologyMetabolic syndromebusiness030217 neurology & neurosurgeryBiomarkersSpleenFollow-Up StudiesMolecular genetics and metabolism
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Effect of gene-gene and gene-environment interactions associated with antituberculosis drug-induced hepatotoxicity.

2017

This study evaluated the association between environmental factors and genetic variations in enzymes that metabolize antituberculosis (anti-TB) drugs [arylamine N-acetyltransferase 2, cytochrome P450 2E1 (CYP2E1), glutathione S-transferase theta 1 (GSTT1), and glutathione S-transferase mu 1] with antituberculosis drug-induced hepatotoxicity (ATDH). We also investigated the potential gene-gene and gene-environment interactions as well as their association with ATDH development in a population of hospitalized TB patients from Buenos Aires.We investigated 364 TB patients who received anti-TB drugs. Physicians collected demographic and clinical data to identify environmental risk factors for AT…

0301 basic medicineAdultMalemedicine.medical_specialtyAntitubercular AgentsBiologyPharmacologyPolymorphism Single Nucleotide03 medical and health scienceschemistry.chemical_compoundYoung Adult0302 clinical medicineMolecular geneticsGenotypeGenetic variationGeneticsmedicineHumansGeneral Pharmacology Toxicology and PharmaceuticsAlleleMolecular BiologyGeneGenetics (clinical)chemistry.chemical_classificationEpistasis GeneticGlutathioneCYP2E1gene antitubercolosis drug drug cytochrome geneticsSettore BIO/18 - Genetica030104 developmental biologyEnzymechemistryLiver030220 oncology & carcinogenesisMolecular MedicineFemalePharmacogenetics and genomics
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