Search results for "ROUGH"

showing 10 items of 1198 documents

NDST1 missense mutations in autosomal recessive intellectual disability.

2014

NDST1 was recently proposed as a candidate gene for autosomal recessive intellectual disability in two families. It encodes a bifunctional GlcNAc N-deacetylase/N-sulfotransferase with important functions in heparan sulfate biosynthesis. In mice, Ndst1 is crucial for embryonic development and homozygous null mutations are perinatally lethal. We now report on two additional unrelated families with homozygous missense NDST1 mutations. All mutations described to date predict the substitution of conserved amino acids in the sulfotransferase domain, and mutation modeling predicts drastic alterations in the local protein conformation. Comparing the four families, we noticed significant overlap in …

AdultMaleModels MolecularCandidate geneAdolescentGenotypeProtein ConformationDNA Mutational AnalysisMutation MissenseGenes RecessiveBiologyBioinformaticsPolymorphism Single NucleotideAnimals Genetically ModifiedEpilepsyConsanguinityYoung AdultProtein structureIntellectual DisabilityIntellectual disabilityGeneticsmedicineMissense mutationAnimalsHumansChildGenetics (clinical)GeneticsGene knockdownMuscular hypotoniaBehavior AnimalComputational BiologyFaciesHigh-Throughput Nucleotide Sequencingmedicine.diseasePhenotypePedigreePhenotypeChild PreschoolGene Knockdown TechniquesDrosophilaFemaleSulfotransferasesGenome-Wide Association StudyAmerican journal of medical genetics. Part A
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Opioid use and effectiveness of its prescription at discharge in an acute pain relief and palliative care unit

2013

The aim of this study was to present how opioids are used in an acute pain relief and palliative care unit (APRPCU), where many patients with difficult pain conditions are admitted from GPs, home palliative care programs, oncology departments, other hospitals or emergency units, and other regional places. From a consecutive sample of cancer patients admitted to an APRPCU for a period of 6 months, patients who had been administered opioids were included in this survey. Basic information was collected as well as opioid therapy prescribed at admission and, subsequently, during admission and at time of discharge. Patients were discharged once stabilization of pain and symptoms were obtained and…

AdultMalePalliative careDosePain medicineSettore MED/41 - AnestesiologiaDrug PrescriptionsNeoplasmsHumansMedicineMedical prescriptionAgedPain MeasurementMorphinebusiness.industryBreakthrough PainPalliative CareContinuity of Patient CareAcute PainPatient DischargeOpioid use . Pain relief . Palliative careAnalgesics OpioidDistressOncologyOpioidAnesthesiaMorphineFemalebusinessCancer painmedicine.drug
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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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Effectiveness of opioid rotation in the control of cancer pain: The ROTODOL Study

2014

Objective: To assess the effectiveness of opioid rotation (OR) to manage cancer pain. To describe the adverse events (AEs) associated with OR. Setting: Thirty-nine tertiary hospital services.Patients: Sixty-seven oncological patients with cancer-related pain treated at outpatient clinics.Intervention: Prospective multicenter study. Pain intensity was scored using a Numerical Rating Scale (NRS) of 0-10. Average pain (AP) intensity in the last 24 hours, breakthrough pain (BTP), and the number of episodes of BTP on the days before and 1 week after OR were assessed. The pre-OR and post-OR opioid were recorded. The presence and intensity of any AEs occurring after OR were also recorded.Results: …

AdultMaleTime FactorsSeverity of Illness IndexDrug Administration ScheduleTertiary Care CentersBasal (phylogenetics)AnalgèsicsRating scaleOpioid rotationNeoplasmsHumansMedicineOutpatient clinicPharmacology (medical)Prospective StudiesAdverse effectAgedPain MeasurementAged 80 and overDrug Substitutionbusiness.industryBreakthrough PainGeneral MedicineMiddle AgedIntensity (physics)Analgesics OpioidTreatment OutcomeAnesthesiology and Pain MedicineOpioidSpainAnesthesiaFemaleChronic PainOpiDolor oncològicbusinessCancer painmedicine.drugJournal of Opioid Management
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Transmucosal fentanyl vs intravenous morphine in doses proportional to basal opioid regimen for episodic-breakthrough pain

2007

The use of supplemental doses of opioids is commonly suggested to manage breakthrough pain. A comparative study of intravenous morphine (IV-MO) and oral transmucosal fentanyl citrate (OTFC) given in doses proportional to the basal opioid regimen was performed in 25 cancer patients receiving stable opioid doses. For each episode, when it occurred and 15 and 30 min after the treatment, pain intensity and opioid-related symptoms were recorded. Fifty-three couples of breakthrough events, each treated with IV-MO and OTFC, were recorded. In episodes treated with IV-MO, pain intensity decreased from a mean of 6.9 to 3.3 and to 1.7 at T1 and T2, respectively. In episodes treated with OTFC, pain int…

AdultMalecancer painCancer Researchintravenous morphineAdolescentTransmucosal fentanyl; intravenous morphine; episodic-breakthrough pain.Transmucosal fentanylAdministration OralPainFentanylNeoplasmsClinical StudiesmedicineHumansDosingChildOTFCAdverse effectCross-Over StudiesMorphinebusiness.industryInfantopioidsMiddle Agedbreakthrough painCrossover studyAnalgesics OpioidFentanylRegimenepisodic-breakthrough pain.OncologyOpioidChild PreschoolAnesthesiaInjections IntravenousMorphineFemalebusinessCancer painmedicine.drugBritish Journal of Cancer
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Novel rearrangements involving the RET gene in papillary thyroid carcinoma.

2018

Abstract Background In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in PTC (“RET-PTC”) can notably be enlarged by modern targeted next-generation sequencing, indicating similarities between oncogenic pathways in other cancer types with identical genetic alterations. Methods Targeted next-generation sequencing was performed for two cases of BRAF-wild type PTC with confirmation of the results by Sanger sequencing. A “UniProt” database research …

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesendocrine systemCancer Researchendocrine system diseasesOncogene Proteins FusionBiologyRUN domainmedicine.disease_causeProto-Oncogene MasFusion gene03 medical and health sciencessymbols.namesake0302 clinical medicineGeneticsmedicineHumansThyroid NeoplasmsneoplasmsMolecular BiologyGeneSanger sequencingGene RearrangementProto-Oncogene Proteins c-retIntracellular Signaling Peptides and ProteinsCancerHigh-Throughput Nucleotide SequencingNuclear ProteinsProtein-Tyrosine Kinasesmedicine.diseaseLisH domainThyroid Cancer Papillary030220 oncology & carcinogenesisCancer researchsymbolsFemaleCarcinogenesisCarrier ProteinsTyrosine kinaseCancer genetics
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Intranasal fentanyl versus fentanyl pectin nasal spray for the management of breakthrough cancer pain in doses proportional to basal opioid regimen.

2014

Abstract The aim of this randomized, crossover, comparison study was to assess the analgesic and adverse effects of 2 nasal preparations, intranasal fentanyl (INFS) and fentanyl pectin nasal spray (FPNS), for breakthrough pain, given in doses proportional to opioid basal regimen. Each patient randomly received INFS or FPNS in doses proportional to opioid dosages used for background analgesia for 2 pairs of episodes. For each episode of breakthrough pain, pain intensity and adverse effects intensity were recorded just before starting the INFS or FPNS (T0) and 5 minutes (T5), 10 minutes (T10), and 20 minutes (T20) after the administration of the nasal drugs. Sixty-nine patients were studied. …

AdultMalefentanyl pectin nasal spraymedicine.medical_treatmentAnalgesicSettore MED/42 - Igiene Generale E ApplicataFentanylrapid-onset opioidsNeoplasmsparasitic diseasesMedicineHumansCancer painAdverse effectAgedPain MeasurementAged 80 and overDose-Response Relationship Drugbusiness.industryBreakthrough Painintranasal fentanylNasal SpraysMiddle AgedCancer pain; breakthrough pain; fentanyl pectin nasal spray; intranasal fentanyl; rapid-onset opioidsAnalgesics OpioidFentanylRegimenAnesthesiology and Pain MedicineCross-Sectional StudiesNeurologyOpioidNasal sprayAnesthesiaPectinsNasal administrationFemaleNeurology (clinical)businessCancer painmedicine.drugThe journal of pain
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Cancer pain management in an oncological ward in a comprehensive cancer center with an established palliative care unit

2013

Abstract BACKGROUND: This survey was performed to draw information on pain prevalence, intensity, and management from a sample of patients who were admitted to an oncologic center where a palliative care unit (PCU) has been established for 13 years. METHODS: Cross-sectional survey in an oncological department performed 1 day per month for six consecutive months. RESULTS: Of the 385 patients, 69.1, 19.2, 8.6, and 3.1 % had no pain, mild, moderate, and severe pain, respectively. Inpatients and patients with a low Karnofsky score showed higher levels of pain intensity (p < 0.0005). One hundred twenty-eight patients with pain or receiving analgesics were analyzed for pain management index (PMI)…

AdultMalemedicine.medical_specialtyPalliative careSettore MED/06 - Oncologia MedicaCross-sectional studyPain medicineMEDLINEPainSettore MED/41 - AnestesiologiaOpioidSettore MED/42 - Igiene Generale E ApplicataYoung AdultNeoplasmsPrevalencemedicineHumansPain ManagementChemotherapyKarnofsky Performance StatusYoung adultAgedPain MeasurementAnalgesicsbusiness.industryNursing researchBreakthrough PainPalliative CareMiddle AgedCross-Sectional StudiesOncologyOpioidChemotherapy; Opioid; PainEmergency medicinePhysical therapyFemaleCancer painbusinessmedicine.drugSupportive Care in Cancer
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Assessing age and gender in studies of breakthrough pain medications

2014

AbstractObjective:The present review was performed to identify possible differences observed between adults and elderly patients and between males and females in randomized clinical trials of breakthrough pain (BTP).Methods:A systematic search of the existing literature from 1998 to September 2013 was performed. Randomized clinical trials reporting data on older patients were selected.Results:Sixteen comparative studies were selected. The age range of inclusion criteria patients was mainly between 18–80 or ≥18 years. In some cases this data was unreported. The mean age of patients was 48–64 years, but information regarding the number of elderly patients was present in three studies only. Ge…

AdultMalemedicine.medical_specialtyPediatricsBreakthrough PainSubgroup analysislaw.inventionAge and genderSex FactorsRandomized controlled trialOlder patientslawNeoplasmsmedicineHumansPsychiatryAdverse effectAgedRandomized Controlled Trials as Topicbusiness.industryBreakthrough PainAge FactorsGender distributionGeneral Medicinebreakthrough pain cancer painAnalgesics OpioidTreatment OutcomeFemaleCancer painbusinessCurrent Medical Research and Opinion
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Long-term efficacy and tolerability of intranasal fentanyl in the treatment of breakthrough cancer pain

2015

Purpose: The aim of the present study was to assess the long-term tolerability and efficacy of intranasal fentanyl (INFS) in opioid-tolerant patients with breakthrough cancer pain (BTP).Patients and methods: A 6 months, observational, prospective, cohort study design was employed to follow advanced cancer patients with BTP receiving INFS under routine clinical practice. Eligible adult cancer patients suffering from BTP had been prescribed INFS at effective doses. Data were collected at T0 and at month intervals for six months. The principal outcomes were the evaluation of possible serious adverse effects with prolonged use of INFS, the efficacy of BTP treatment with INFS, the quality of sle…

AdultMalemedicine.medical_specialtySettore MED/42 - Igiene Generale E ApplicataFentanylCohort StudiesPatient satisfactionNeoplasmsInternal medicineparasitic diseasesHumansPain ManagementMedicineProspective StudiesCancer painAdverse effectProspective cohort studyAdministration IntranasalAgedPain Measurementbusiness.industryBreakthrough PainMiddle AgedTolerabilityDiscontinuationAnalgesics OpioidFentanylBreakthrough pain; Cancer pain; Intranasal fentanyl; Tolerability; OncologyOncologyTolerabilityPatient SatisfactionAnesthesiaIntranasal fentanylFemaleSleepbusinessCancer painmedicine.drugCohort studySupportive Care in Cancer
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