Search results for "abnormal"

showing 10 items of 761 documents

Case report of a large cephalic vein aneurysm inducing heart failure in a renal transplant patient with radio-cephalic fistula for haemodialysis

2020

Highlights • The venous aneurysm is one of the most common complications of autologous AVF. • The vein aneurysm should be treat by surgical resection and anastomotic ligature. • AVF shouldn’t be ligated from 1-year kidney transplantation except in some cases. • Surgical ligation to prevent complications could be considered an option.

medicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesFistulaArteriovenous fistulaCase ReportHeart failure03 medical and health sciences0302 clinical medicineAneurysmmedicinecardiovascular diseasesVeinKidney transplantationArteriovenous fistulaCephalic veinbusiness.industryRenal transplantationmedicine.diseaseSurgeryTransplantationmedicine.anatomical_structure030220 oncology & carcinogenesiscardiovascular system030211 gastroenterology & hepatologySurgerybusinessKidney diseaseSurgical repairInternational Journal of Surgery Case Reports
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Impact of Cumulative Dose of Carfilzomib in Combination with Lenalidomide and Dexamethasone in Relapsed Refractory Myeloma Patients: A Retrospective …

2018

Abstract Background: Triplet-based lenalidomide plus dexamethasone (Rd) combinations have become the new standard of care for early relapse and refractory multiple myeloma (RRMM). Carfilzomib is a novel selective proteasome inhibitor (PI) with high efficacy in RRMM. The ASPIRE phase 3 trial showed the superiority of carfilzomib-based triplet (KRd compared to Rd), leading to approval of K for RRMM. However, little is known about safety and efficacy of KRd outside a clinical trial context. Experimental design and aims: In 11 Sicilian Centers belonging to the Sicilian Myeloma Network, from November 2016, when KRd regimen was approved in Italy, to June 2018, 103 consecutive RRMM patients (previ…

medicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiescomplete remissionImmunologylenalidomideadverse eventContext (language use)dexamethasoneBiochemistrychemistry.chemical_compoundMedian follow-upInternal medicinemedicinecarfilzomib dexamethasone lenalidomide multiple myeloma toxic effect adverse event bortezomib complete remission erythropoietin febrile neutropeniaMultiple myelomaLenalidomidetoxic effectcarfilzomibbusiness.industryCumulative dosebortezomibCell BiologyHematologymedicine.diseaseCarfilzomibmultiple myelomaRegimenfebrile neutropeniachemistryerythropoietinbusinessFebrile neutropeniamedicine.drug
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Patient preferences in the treatment of hemophilia A: impact of storage conditions on product choice

2018

Bernd Tischer,1 Renato Marino,2 Mariasanta Napolitano3 1Kantar Health, Munich, Germany; 2Haemophilia and Thrombosis Centre, University Hospital of Bari, Apulia, Italy; 3University of Palermo, Reference Regional Center for Thrombosis and Hemostasis Hematology Unit, Palermo, Italy Objectives: To gain insights into the usage of factor VIII (FVIII) products by patients diagnosed with moderate/severe hemophilia A, and to assess the impact and perceived importance of product storage.Methods: In this study, 200 patients diagnosed with moderate or severe hemophilia A across seven countries participated. Data were collected via a 30-minute, face-to-face interview in six countries and via a web-based…

medicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitieshemophilia A recombinant FVIII plasma-derived FVIII storage reconstitution stabilityTreatment Adherence haemophiliaActivities of daily livingMedicine (miscellaneous)030204 cardiovascular system & hematologySevere hemophilia AHaemophiliaHemophilia Astorage03 medical and health sciences0302 clinical medicinePatient satisfactionrecombinant FVIIIplasma-derived FVIIIhemic and lymphatic diseasesMedicine030212 general & internal medicineProduct (category theory)Pharmacology Toxicology and Pharmaceutics (miscellaneous)Original Researchlcsh:R5-920business.industryHealth Policystabilitymedicine.diseasePatient preferenceConjoint analysisProduct choicePatient Preference and AdherenceEmergency medicinereconstitutionbusinesslcsh:Medicine (General)Social Sciences (miscellaneous)Patient Preference and Adherence
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Use of wearable cardioverter‐defibrillator in association with catheter ablation for atrial fibrillation‐related tachycardiomyopathy

2019

Implantable cardioverter‐defibrillator (ICD) implantation is not indicated in patients with potentially transient or reversible causes of sudden cardiac death (SCD). Wearable cardioverter‐defibrillator (WCD) is increasingly used for SCD prevention in patients who are temporary at high risk of ventricular arrhythmia. Hereby, we describe a case of tachycardiomyopathy successfully managed with ablation and WCD backup. Implantable cardioverter‐defibrillators are a Class I indication by American College of Cardiology/American Heart Association/Heart Rhythm Society guidelines to prevent SCD in patients with nonischemic dilated cardiomyopathy, New York Heart Association (NYHA) functional class II …

medicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesimplantable cardioverter defibrillatormedicine.medical_treatmentCatheter ablationCase ReportCase Reports030204 cardiovascular system & hematologySudden cardiac death03 medical and health sciences0302 clinical medicineInternal medicinehemic and lymphatic diseasescatheter ablationmedicineatrial fibrillationcardiovascular diseasesEjection fractionwearable cardioverter defibrillatorbusiness.industryDilated cardiomyopathyAtrial fibrillationGeneral Medicinemedicine.diseaseImplantable cardioverter-defibrillator030220 oncology & carcinogenesisHeart failureCardiologycardiovascular systembusinessWearable cardioverter defibrillatorClinical Case Reports
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Double nail of the second toe: A case report with sonographic and radiological correlation

2021

Double toenail is a rare abnormality that usually affects the fifth toe. It is considered as an inherited condition that may represent an incomplete form of polydactyly. Underlying bone abnormalities should be ruled out. We present a case of a double toenail of the second toe, a location that has not previously been described, with underlying bone involvement noted on ultrasound and plain films.

medicine.medical_specialtyintegumentary systemPolydactylybusiness.industryUltrasoundDermatologyToesmedicine.diseaseRadiographybody regionsmedicine.anatomical_structureNailsRadiological weaponPediatrics Perinatology and Child HealthmedicineNail (anatomy)HumansRadiologyAbnormalitybusinessSecond toeUltrasonographyPediatric Dermatology
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Hysteroscopy and treatment of uterine polyps.

2015

This article summarizes and analyzes the salient topics on the diagnosis and management of endometrial polyps, focusing on the role of the hysteroscopy. Noninvasive investigations such as transvaginal ultrasonography, with or without the use of three-dimensional ultrasonography (3D US) and contrast techniques, remain the mainstay of first-line investigation. Hysteroscopic resection represents the gold standard minimally invasive treatment for endometrial polyps. It is the most effective management and allows histologic assessment, whereas blind biopsy or curettage have low diagnostic accuracy and should not be performed.

medicine.medical_specialtymedicine.medical_treatmentBiopsyAbnormal uterine bleedingHysteroscopyUterine polypsPolypsBiopsymedicineEndometrial PolypAmbulatory CareHumansUltrasonographymedicine.diagnostic_testTransvaginal ultrasonographybusiness.industryObstetrics and GynecologyGeneral MedicineGold standard (test)medicine.diseaseSettore MED/40 - Ginecologia E Ostetriciaabnormal uterine bleeding; endometrial polyps; hysteroscopy; polypectomyPolypectomyCurettageEndometrial NeoplasmsPolypectomyendometrial polypsHysteroscopyFemaleRadiologybusinessEndometrial polypBest practiceresearch. Clinical obstetricsgynaecology
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Similarly increased congenital anomaly rates after intrauterine insemination and IVF technologies: a retrospective cohort study

2012

International audience; BACKGROUND: While intrauterine insemination (IUI), a simple, inexpensive and non-invasive technique, is the most used assisted reproduction technology (ART) worldwide, the risk of major birth defects following IUI is paradoxically not well documented. METHODS: Retrospective cohort study performed in Burgundy, France, over a 9-year period which consisted of the cross analysis of two prospective databases, the Burgundy perinatal network database and the database of the assisted conception units in Burgundy. A total of 1348 ART singletons [in vitro fertilization technologies (IVFT): n= 903; IUI: n= 445] matched with 4044 infants conceived naturally, 552 ART twins (IVFT:…

medicine.medical_specialtymedicine.medical_treatment[ SDV.MHEP.PED ] Life Sciences [q-bio]/Human health and pathology/PediatricsFertilization in VitroBiologyInseminationInseminationCongenital Abnormalities03 medical and health sciences0302 clinical medicinePregnancyRisk FactorsmedicineConfidence IntervalsOdds RatioPrevalenceHumans030212 general & internal medicineInsemination ArtificialRetrospective StudiesGynecologyPregnancy[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics030219 obstetrics & reproductive medicineIntrauterine inseminationArtificial inseminationRehabilitationObstetrics and GynecologyCongenital malformationsRetrospective cohort studyOdds ratiomedicine.diseaseConfidence intervalReproductive MedicineArtificialFemale
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Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex.

2012

Expansion of CAG repeats is a common feature of various neurodegenerative disorders, including Huntington's disease. Here we show that expanded CAG repeats bind to a translation regulatory protein complex containing MID1, protein phosphatase 2A and 40S ribosomal S6 kinase. Binding of the MID1-protein phosphatase 2A protein complex increases with CAG repeat size and stimulates translation of the CAG repeat expansion containing messenger RNA in a MID1-, protein phosphatase 2A- and mammalian target of rapamycin-dependent manner. Our data indicate that pathological CAG repeat expansions upregulate protein translation leading to an overproduction of aberrant protein and suggest that the MID1-com…

metabolism [Microtubule Proteins]General Physics and AstronomyHTT protein humanRibosomal s6 kinaseMice0302 clinical medicinemetabolism [Transcription Factors]Protein Phosphatase 2Luciferasesgenetics [Nerve Tissue Proteins]genetics [Protein Biosynthesis]0303 health sciencesHuntingtin ProteinMultidisciplinarybiologyTOR Serine-Threonine KinasesNuclear ProteinsTranslation (biology)3. Good healthmetabolism [Luciferases]Microtubule Proteinsddc:500metabolism [Nuclear Proteins]genetics [Trinucleotide Repeat Expansion]Protein Bindingcongenital hereditary and neonatal diseases and abnormalitiesMTOR protein humanUbiquitin-Protein LigasesBlotting WesternNerve Tissue Proteinsmetabolism [TOR Serine-Threonine Kinases]metabolism [RNA Messenger]General Biochemistry Genetics and Molecular Biology03 medical and health sciencesgenetics [RNA Messenger]mental disordersHuntingtin ProteinAnimalsHumansEukaryotic Small Ribosomal SubunitRNA MessengerNucleotide Motifs030304 developmental biologyMessenger RNAmetabolism [Nerve Tissue Proteins]RNAmetabolism [Protein Phosphatase 2]General ChemistryProtein phosphatase 2Molecular biologynervous system diseasesProtein Biosynthesisbiology.proteinTrinucleotide repeat expansionTrinucleotide Repeat Expansion030217 neurology & neurosurgeryMid1 protein humanHeLa CellsTranscription FactorsNature communications
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Hands-feet wireless devices: Test-retest reliability and discriminant validity of motor measures in Parkinson's disease telemonitoring

2022

Background Telemonitoring, a branch of telemedicine, involves the use of technological tools to remotely detect clinical data and evaluate patients. Telemonitoring of patients with Parkinson's disease (PD) should be performed using reliable and discriminant motor measures. Furthermore, the method of data collection and transmission, and the type of subjects suitable for telemonitoring must be well defined. Objective To analyze differences in patients with PD and healthy controls (HC) with the wearable inertial device SensHands-SensFeet (SH-SF), adopting a standardized acquisition mode, to verify if motor measures provided by SH-SF have a high discriminating capacity and high intraclass corr…

motor function assessmentFootParkinson's diseasesubclinical motor abnormalitieswearable sensorsReproducibility of ResultstelemonitoringParkinson DiseaseGeneral MedicineWearable Electronic DevicesNeurologyHumansbiomechanical parametersSettore MED/26 - NeurologiaNeurology (clinical)telemedicineGait
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RNA-mediated therapies in myotonic dystrophy

2018

Myotonic dystrophy 1 (DM1) is a multisystemic neuromuscular disease caused by a dominantly inherited 'CTG' repeat expansion in the gene encoding DM Protein Kinase (DMPK). The repeats are transcribed into mRNA, which forms hairpins and binds with high affinity to the Muscleblind-like (MBNL) family of proteins, sequestering them from their normal function. The loss of function of MBNL proteins causes numerous downstream effects, primarily the appearance of nuclear foci, mis-splicing, and ultimately myotonia and other clinical symptoms. Antisense and other RNA-mediated technologies have been applied to target toxic-repeat mRNA transcripts to restore MBNL protein function in DM1 models, such as…

musculoskeletal diseases0301 basic medicinePharmacologycongenital hereditary and neonatal diseases and abnormalitiesMessenger RNAMyotonin-protein kinaseRNABiologymedicine.diseaseMyotoniaMyotonic dystrophyMyotonin-Protein KinaseCell biology03 medical and health sciences030104 developmental biologyDrug DiscoverymedicineAnimalsHumansMyotonic DystrophyRNARNA MessengerTrinucleotide repeat expansionGeneLoss functionDrug Discovery Today
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