Search results for "POMA."

showing 10 items of 183 documents

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA

2022

Contains fulltext : 248375.pdf (Publisher’s version ) (Closed access) BACKGROUND: Gitelman syndrome is the most frequent hereditary salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. Gitelman syndrome is caused by biallelic pathogenic variants in SLC12A3, encoding the Na(+)-Cl(-) cotransporter (NCC) expressed in the distal convoluted tubule. Pathogenic variants of CLCNKB, HNF1B, FXYD2, or KCNJ10 may result in the same renal phenotype of Gitelman syndrome, as they can lead to reduced NCC activity. For approximately 10 percent of patients with a Gitelman syndrome phenotype, the genotype is unknown. METHODS: We identified mitochondrial DNA (mtDNA) variants in th…

MaleKidneyDISEASEion transportGenotypeSolute Carrier Family 12 Member 3Gitelman-s syndromeCHANNEL GENEChildRNA Transfer IlePHOSPHORYLATIONNCCbiologygenetic renal diseaseblood pressureMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]General MedicineMiddle Agedchronic kidney failureTUBULENa transportPedigreemitochondriaBARTTER-SYNDROMEPhenotypemedicine.anatomical_structureMitochondrial respiratory chainMAGNESIUMNephrologyChild Preschoolepithelial sodium transportFemaleGitelman SyndromeAdultMitochondrial DNAAdolescentGenotypehuman geneticsKCNJ10DNA MitochondrialModels BiologicalPolymorphism Single NucleotideRNA Transfer PheYoung AdultTubulopathymedicineHumansDistal convoluted tubuleHYPOMAGNESEMIAAgedCLCNKBNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]MITOCHONDRIAL-DNA MUTATIONBase SequenceInfantGitelman syndromemedicine.diseaseMolecular biologySODIUM-CHLORIDE COTRANSPORTERHEK293 CellsRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]Basic ResearchMutationbiology.proteinNucleic Acid Conformationchronic kidney disease
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Cervical lymph node metastasis in squamous cell carcinoma of the buccal mucosa: a retrospective study on pattern of involvement and clinical analysis

2020

Background The study was performed with an aim to map the pattern of metastasis of squamous cell carcinomas of buccal mucosa to various cervical lymph node levels and analyze its correlation with primary tumor size and histo-pathological grading. Material and Methods 254 patients with squamous cell carcinoma of the buccal mucosa treated with surgery first approach were analyzed retrospectively. The tumor size was noted from pre-operative CT Scans and were divided into early and advanced tumors. The resected specimen was studied to note the histo-pathological grading of the squamous cell carcinoma and the metastatic deposits at various lymph node levels. Results Out of 254 patients (149 fema…

MalePathologymedicine.medical_specialtyCelllipomaangiolipomaMetastasisoral03 medical and health sciences0302 clinical medicineCarcinomaHumansMedicineGeneral DentistryGrading (tumors)Lymph nodeUNESCO:CIENCIAS MÉDICASNeoplasm StagingRetrospective StudiesClinical pathologybusiness.industryResearchMouth Mucosa030206 dentistryfibrolipomamedicine.diseasechondrolipomaPrimary tumormedicine.anatomical_structureOtorhinolaryngologyLymphatic MetastasisCarcinoma Squamous CellFemaleSurgeryspindle cell lipomaLymph NodesLymphOral SurgerymouthbusinessMedicina Oral Patología Oral y Cirugia Bucal
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Adherence to immunomodulatory drugs in patients with multiple myeloma

2018

Background Immunomodulatory drugs (thalidomide, lenalidomide and pomalidomide; IMID) are widely used in the treatment of multiple myeloma patients. To date, few data are available on IMID adherence in multiple myeloma patients. The aim of our study was to evaluate IMID adherence and to compare two indirect methods to measure IMID adherence in multiple myeloma patients: a specific questionnaire and the medication possession ratio (MPR). Another aim was to explore this specific questionnaire for the assessment of IMID adherence in multiple myeloma patients. Methods All consecutive multiple myeloma patients, with at least two consecutive dispensations of thalidomide, lenalidomide or pomalidomi…

MaleQuestionnairesCancer Treatment030204 cardiovascular system & hematologyPharmacistsPlasma Cell DisordersHematologic Cancers and Related DisordersMathematical and Statistical Techniques0302 clinical medicineSurveys and QuestionnairesMedicine and Health SciencesMedical PersonnelProspective StudiesProspective cohort studyMultiple myelomaMultidisciplinaryQStatisticsRHematologyMyelomasProfessionsOncologyResearch Design030220 oncology & carcinogenesisPhysical SciencesMedicineRegression AnalysisFemaleMultiple MyelomaResearch Articlemedicine.drugmedicine.medical_specialtyDrug AdherenceClinical Research DesignScienceLinear Regression AnalysisResearch and Analysis MethodsMedication Adherence03 medical and health sciencesCronbach's alphaInternal medicinemedicineHumansImmunologic FactorsIn patientMyelomas and Lymphoproliferative DiseasesStatistical MethodsAdverse effectAgedLenalidomidePharmacologySurvey Researchbusiness.industryCancers and NeoplasmsPomalidomidemedicine.diseaseThalidomidePeople and PlacesPopulation GroupingsAdverse EventsbusinessMathematicsPLOS ONE
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Trigeminal Neuralgia and Cerebellopontine‐Angle Lipoma in a Child

2001

Trigeminal neuralgia and cerebellopontine-angle lipomas are very rare in children. We describe the history and findings of an 8-year-old boy with right trigeminal neuralgia and a lipoma detected by magnetic resonance imaging at the level of the root-entry zone of the right seventh cranial nerve. We propose a possible mechanism of infiltration of the trigeminal rootlets by the lipoma.

MaleRight trigeminal neuralgiaCerebellopontine AngleTrigeminal neuralgiaotorhinolaryngologic diseasesmedicineHumansCranial nerve diseaseChildTrigeminal nervemedicine.diagnostic_testBrain Neoplasmsbusiness.industryMagnetic resonance imagingAnatomyTrigeminal NeuralgiaLipomamedicine.diseaseCerebellopontine angleMagnetic Resonance Imagingnervous system diseasesbody regionsstomatognathic diseasesNeurologyNeuralgiaLipomaNeurology (clinical)medicine.symptombusinessHeadache: The Journal of Head and Face Pain
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Spermiogenesis in the vermetid gastropod Dendropoma petraeum (Gastropoda, Prosobranchia)

2002

The structure and maturation of the male gonad of the Mediterranean vermetid gastropod Dendropoma petraeum are described. Histological sections of the gonads were made throughout development and gonad activity was monitored at regular monthly intervals. During the autumn months the gonad is very small and is surrounded by a large quantity of connective tissue; it becomes more voluminous from December to August, with the highest growth peak in springtime. The stages of spermatogenesis were also observed and described.

Maleendocrine systemDendropoma petraeumHistologyGonadSpermiogenesisBiophysicsZoologyTestisGastropodamedicineAnimalsSpermatogenesislcsh:QH301-705.5Molluscabiologyurogenital systemProsobranchiaCell BiologyAnatomybiology.organism_classificationMale gonadSpermatidsSpermatozoamedicine.anatomical_structurelcsh:Biology (General)MolluscaEuropean Journal of Histochemistry
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Serum ionized magnesium levels in relation to metabolic syndrome in type 2 diabetic patients

2006

Objective: To evaluate circulating serum ionized magnesium (i-Mg) concentrations in patients with type 2 diabetes mellitus, and to investigate its relationship with the components of the metabolic syndrome. Design: cross-sectional study. Setting: Outpatients' service for diabetic patients at the University Hospital of Messina, Italy. Subjects: 290 patients with type 2 diabetes mellitus. Measures of Outcome: Serum i-Mg was measured by ion selective electrode. Age, gender, body mass index (BMI), waist circumference, blood pressure, fasting glucose, HbA1c, HDL cholesterol, triglycerides, and urinary albumin excretion rate (UAER) were considered in the analyses. Patients with hypomagnesemia, de…

Malemedicine.medical_specialtyPlasma triglyceridesMedicine (miscellaneous)Type 2 diabetesplasma triglycerideHypomagnesemiaWaist–hip ratioDiabetes mellitusRisk FactorsInternal medicineDiabetes mellitusBlood plasmamedicineHumansAlbuminuriaMagnesiumTriglyceridesSerum ionized magnesiumAnalysis of VarianceNutrition and DieteticsWaist-Hip Ratiodiabetes mellitubusiness.industryType 2 Diabetes MellitusAlbuminuria; Diabetes mellitus; Metabolic syndrome; Plasma triglycerides; Serum ionized magnesium; Waist circumferenceMiddle Agedmedicine.diseaseMetabolic syndromeCross-Sectional StudiesEndocrinologyDiabetes Mellitus Type 2Waist circumferenceFemaleMetabolic syndromebusinessMagnesium DeficiencyBody mass index
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Overlapping patterns of morphometric and genetic differentiation in the Mediterranean goby Pomatoschistus tortonesei Miller, 1968 (Perciformes, Gobii…

2012

Abstract. The genetic and morphological variations of Pomatoschistus tortonesei Miller, 1968 were studied in samples collected from three Tunisian lagoons. The morphological analysis included 18 morphometric measurements and was based on linear discriminant analysis (LDA), whereas the genetic analysis was based on the 16S-rRNA and COI mitochondrial genes. Both analyses differentiated the populations and demonstrated consistently a well-supported differentiation between the western Mediterranean samples (Bizerta and Tunis South lagoons) and the eastern Mediterranean sample (El Bibane lagoon). The observed differentiation could be explained in terms of the geographic isolation of the various …

Mediterranean climateGenetic diversityGobiidae; Genetic diversity; Lagoon ecosystems; Mediterranean Sea; MorphometrybiologyEcologyMorphometryPomatoschistus tortoneseiSettore BIO/05 - ZoologiaGobyGenetic VariationZoologybiology.organism_classificationBiological EvolutionGenetic diversityPerciformesPerciformesPhenotypeMediterranean seaLagoon ecosystemMorphological analysisMediterranean SeaAnimalsBiological dispersalAnimal Science and ZoologyGobiidaeZoology
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Genetic architecture of the marbled goby Pomatoschistus marmoratus (Perciformes, Gobiidae) in the Mediterranean Sea

2011

The marbled goby Pomatoschistus marmoratus, a species inhabiting coastal Mediterranean lagoons, has been studied by measuring its mitochondrial DNA variation. This analysis revealed a Mediterranean west vs east split and, subsequently, an eastern differentiation among the Libyan–Tunisian Gulf, the Adriatic Sea and the Aegean Sea. The high cohesion between the samples collected in the vast area of western Mediterranean contrasts with the genetic mosaic of the more sub-structured eastern Mediterranean. This western homogeneity can not yet be fully explained even if a human-mediated migratory flow, due to a maritime traffic, has been posited. The pattern in the eastern basin revealed a genetic…

Mediterranean climateMarbled gobySettore BIO/05 - ZoologiaDNA MitochondrialPerciformesPomatoschistusEvolution MolecularMediterranean seaGeneticsMediterranean SeaAnimalsMolecular BiologyEcology Evolution Behavior and SystematicsPomatoschistus marmoratus mtDNA Phylogeography Siculo-Tunisian strait Adriatic Sea Aegean Sea Lagoon habitat molecular marker Pomatoschistus marmoratus Mediterranean SeabiologyEcologyGenetic VariationSequence Analysis DNAbiology.organism_classificationPerciformesFisheryPhylogeographyGenetics PopulationHabitatHaplotypesGenetic structureHydrography
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Lipomatous Metaplasia. Two Chronic Infarcts in the Same Patient Detected by Cardiac Magnetic Resonance

2009

MetaplasiaPathologymedicine.medical_specialtyHeart DiseasesLipomatous Metaplasiabusiness.industryMyocardiumMyocardial InfarctionGeneral MedicineMagnetic Resonance ImagingChronic DiseasemedicineHumansLipomatosisCardiac magnetic resonancebusinessRevista Española de Cardiología (English Edition)
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Biological diversity of the microbial film associated to the central-Mediterranean Dendropoma cristatum (Biondi, 1859) reefs.

2017

Microbial films may provide physical and bio-chemical cues which positively affect the settlement dynamic of a variety of benthic marine organisms, driving the development of ecosystems. Also for the Mediterranean intertidal reef-builder Dendropoma cristatum (Biondi, 1859), biofilm maturity has been found to enhance the settlement pattern. However, the microbial diversity associated with these bioconstructions has never been described. This study investigates the D. cristatum reef bacterial assemblage composition and temporal evolution in two localities in the northwest of Sicily. Biological diversity of the reef-associated biofilm and of 3 progressively older biofims obtained on artificial…

Microbial films Dendropoma cristatum reefs Ribosomal Intergenic Spacer Analysis (ARISA)
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