Search results for "Small"

showing 10 items of 2441 documents

CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.

2020

During the past decades, several therapeutic approaches have been developed and made rapidly available for many patients afflicted with lysosomal storage disorders (LSDs), inborn organelle disorders with broad clinical manifestations secondary to the progressive accumulation of undegraded macromolecules within lysosomes. These conditions are individually rare, but, collectively, their incidence ranges from 1 in 2,315 to 7,700 live-births. Most LSDs are manifested by neurological symptoms or signs, including developmental delay, seizures, acroparesthesia, motor weakness, and extrapyramidal signs. The chronic and later-onset clinical forms are at one end of the continuum spectrum and are char…

0301 basic medicineliposomesWeaknessLysosomal storage disordersReviewexosomesBioinformaticsBiochemistry Genetics and Molecular Biology (miscellaneous)BiochemistryExtracellular vesiclesUnmet needs03 medical and health sciences0302 clinical medicinelysosomesSlow progressionmedicineMolecular Bioscienceslcsh:QH301-705.5Molecular BiologytherapyExtrapyramidal signsbusiness.industryEnzyme replacement therapygene therapysmall molecules030104 developmental biologylcsh:Biology (General)030220 oncology & carcinogenesismedicine.symptombusinessextracellular vesiclesNeurological problemsenzyme replacement therapyFrontiers in molecular biosciences
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Strategies against nonsense: oxadiazoles as translational readthrough-inducing drugs (TRIDs)

2019

This review focuses on the use of oxadiazoles as translational readthrough-inducing drugs (TRIDs) to rescue the functional full-length protein expression in mendelian genetic diseases caused by nonsense mutations. These mutations in specific genes generate premature termination codons (PTCs) responsible for the translation of truncated proteins. After a brief introduction on nonsense mutations and their pathological effects, the features of various classes of TRIDs will be described discussing differences or similarities in their mechanisms of action. Strategies to correct the PTCs will be presented, particularly focusing on a new class of Ataluren-like oxadiazole derivatives in comparison …

0301 basic medicinemedia_common.quotation_subjectNonsenseNonsense mutationRegulatorSettore BIO/11 - Biologia MolecolareReviewComputational biologyBiologyOxadiazoleCatalysiscystic fibrosislcsh:ChemistryInorganic Chemistry03 medical and health sciences0302 clinical medicineAtalurenTranslational readthrough inducing drugsPhysical and Theoretical Chemistrylcsh:QH301-705.5Molecular BiologyGeneSpectroscopymedia_commonNonsense mutationOrganic ChemistryTranslational readthroughoxadiazolesPremature termination codonTranslation (biology)General MedicineSettore CHIM/06 - Chimica OrganicaSmall moleculeSettore CHIM/08 - Chimica FarmaceuticaTransmembrane proteinComputer Science ApplicationsSettore BIO/18 - Genetica030104 developmental biologyPharmaceutical Preparationslcsh:Biology (General)lcsh:QD1-999Codon NonsenseProtein Biosynthesis030220 oncology & carcinogenesisCystic fibrosi
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A rare rarity: neuroendocrine tumor of the esophagus

2019

Abstract Esophageal Neuroendocrine tumors (NETs) are rare, aggressive and lacking specific symptoms. This causes a diagnostic delay, worsening the prognosis. Numerous cases are reported in literature, without a consensus on the management. Our aim was to clarify epidemiology, clinical presentation, diagnostic, therapeutic management of esophageal NETs. Extensive literature search identified a total of 226 articles. One hundred twenty-five articles (n = 1676) met the inclusion criteria, showing that: the incidence of esophageal NET varies geographically; men (60–70 years) are more affected; smoking and alcohol abuse are the major risk factors; dysphagia, weight loss, appetite loss are the mo…

0301 basic medicinemedicine.medical_specialtyCarcinoid tumorsesophageal neoplasmsNeuroendocrine tumorsSmall-cell carcinomaGastroenterology03 medical and health sciences0302 clinical medicinegastroenteropancreatic NETInternal medicineEpidemiologymedicinerisk factorsesophageal NEC; gastroenteropancreatic NET; large cell esophageal NEN; MANEC; small cell carcinoma; delayed diagnosis; esophageal neoplasms; humans; neuroendocrine tumors; prognosis; rare diseases; risk factorsEsophagusStage (cooking)esophageal NECdelayed diagnosishumanssmall cell carcinomabusiness.industryLarge cellMANECrare diseasesHematologymedicine.diseaseDysphagia030104 developmental biologymedicine.anatomical_structureOncology030220 oncology & carcinogenesislarge cell esophageal NENprognosismedicine.symptomneuroendocrine tumorsbusiness
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Validity and reliability of the CatWalk system as a static and dynamic gait analysis tool for the assessment of functional nerve recovery in small an…

2017

Introduction: A range of behavioral testing paradigms have been developed for the research of central and peripheral nerve injuries with the help of small animal models. Following any nerve repair strategy, improved functional outcome may be the most important evidence of axon regeneration. A novel automated gait analysis system, the CatWalk™, can measure dynamic as well as static gait patterns of small animals. Of most interest in detecting functional recovery are in particular dynamic gait parameters, coordination measures, and the intensity of the animals paw prints. This article is designed to lead to a more efficient choice of CatWalk parameters in future studies concerning the functio…

0301 basic medicinemedicine.medical_specialtyComputer scienceSettore MED/19 - Chirurgia PlasticaValidityautomated gait analysis systemPeripheral nerve regeneration03 medical and health sciencesBehavioral Neuroscience0302 clinical medicinePhysical medicine and rehabilitationdynamic and static gait parametersPeripheral Nerve InjuriesSmall animalmedicineAnimalsGaitReliability (statistics)Original Researchddc:617dynamic and static gait parameterAnimalPeripheral Nerve InjurieReproducibility of ResultsFunctional MethodRecovery of FunctionSwingFunctional recoveryGaitperipheral nerve regenerationNerve RegenerationDisease Models Animal030104 developmental biologyAutomated gait analysis systemGait analysisRat and mouse sciatic nerverat and mouse sciatic nerveDynamic and static gait parameters030217 neurology & neurosurgeryBrain and Behavior
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Adjuvant MUC vaccination with tecemotide after resection of colorectal liver metastases: a randomized, double-blind, placebo-controlled, multicenter …

2020

ABSTRACT Resection of colorectal liver metastases (CRLM) is a potential curative treatment for patients with metastatic colorectal cancer (mCRC) with liver-limited disease (LLD). Although long-term survival improved considerably within the last decades, high recurrence rates of 50-75% after resection remain a major challenge.Tecemotide (L-BLP25) is an antigen-specific cancer vaccine inducing immunity against mucin-1 (MUC1). The LICC trial aimed to improve survival in patients with mCRC after R0/R1 resection of CRLM. LICC was a binational, randomized, double-blind, placebo-controlled, multicenter phase 2 study including patients with R0/R1 resected CRLM without evidence of metastatic disease…

0301 basic medicinemedicine.medical_specialtyLung Neoplasmsmucin-1 (muc1)Colorectal cancermedicine.medical_treatmentImmunologyMedizinPlaceboCancer VaccinesGastroenterologyResectionDouble blind03 medical and health sciences0302 clinical medicineCarcinoma Non-Small-Cell LungGermanyInternal medicinemedicineHumansImmunology and AllergyRC254-282Original ResearchMembrane Glycoproteinsresection of colorectal liver metastasesbusiness.industryLiver NeoplasmsVaccinationNeoplasms. Tumors. Oncology. Including cancer and carcinogenscolorectal neoplasmsRC581-607medicine.diseasedigestive system diseasesVaccination030104 developmental biologyOncologyCurative treatment030220 oncology & carcinogenesistecemotide (l-blp25)TecemotideNeoplasm Recurrence LocalImmunologic diseases. AllergybusinessAdjuvantResearch Articleliver-limited diseaseOncoImmunology
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A Stage-Based Approach to Therapy in Parkinson’s Disease

2019

Parkinson’s disease (PD) is a neurodegenerative disorder that features progressive, disabling motor symptoms, such as bradykinesia, rigidity, and resting tremor. Nevertheless, some non-motor symptoms, including depression, REM sleep behavior disorder, and olfactive impairment, are even earlier features of PD. At later stages, apathy, impulse control disorder, neuropsychiatric disturbances, and cognitive impairment can present, and they often become a heavy burden for both patients and caregivers. Indeed, PD increasingly compromises activities of daily life, even though a high variability in clinical presentation can be observed among people affected. Nowadays, symptomatic drugs and non-phar…

0301 basic medicinemedicine.medical_specialtyParkinson's diseaseImpulse control disorderlcsh:QR1-502ReviewDiseasel-dopaBiochemistryREM sleep behavior disorderMotor symptomslcsh:MicrobiologyAntiparkinson Agentsnon-pharmacological therapy03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationmedicineHumansdopamine-agonistsApathyanticholinergicsResting tremorMolecular Biologyamantadinebusiness.industryAmantadineParkinson Diseasemonoamine oxidase inhibitorsmotor symptomsmedicine.diseasenon-motor symptoms030104 developmental biologyacetylcholinesterase inhibitorsParkinson’s disease<span style="font-variant: small-caps">l</span>-dopaSettore MED/26 - Neurologiamedicine.symptombusiness030217 neurology & neurosurgerymedicine.drugBiomolecules
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Triclosan activates aryl hydrocarbon receptor (AhR)-dependent apoptosis and affects Cyp1a1 and Cyp1b1 expression in mouse neocortical neurons.

2016

Triclosan (TCS) is an antimicrobial agent that is used extensively in personal care and in sanitizing products, such as soaps, toothpastes, and hair products. A number of studies have revealed the presence of TCS in human tissues, such as fat, liver and brain, in addition to blood and breast milk. The aim of the present study was to investigate the impact of TCS on AhR and Cyp1a1/Cyp1b1 signaling in mouse neocortical neurons in primary cultures. In addition to the use of selective ligands and siRNAs, expression levels of mRNA and proteins as well as caspase-3 activity, reactive oxygen species (ROS) formation, and lactate dehydrogenase (LDH) release have been measured. We also studied the in…

0301 basic medicinemedicine.medical_specialtySmall interfering RNAStimulationCaspase 3ApoptosisNeocortex010501 environmental sciencesBiology01 natural sciencesBiochemistry03 medical and health sciencesMiceInternal medicinemedicineCytochrome P-450 CYP1A1Cyp1a1AnimalsRNA MessengerCells Cultured0105 earth and related environmental sciencesGeneral Environmental Sciencechemistry.chemical_classificationNeuronsReactive oxygen speciesCaspase 3fungiAhRNeurotoxicityCyp1b1respiratory systemNeuronmedicine.diseaseAryl hydrocarbon receptorTriclosanCell biology030104 developmental biologyEndocrinologyMechanism of actionchemistryReceptors Aryl HydrocarbonApoptosisCytochrome P-450 CYP1B1biology.proteinAnti-Infective Agents LocalFemalemedicine.symptomReactive Oxygen SpeciesEnvironmental research
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In Metastatic Non-small cell Lung Cancer Platinum-Based Treated Patients, Herbal Treatment Improves the Quality of Life. A Prospective Randomized Con…

2017

Background: According to clinical experience, Traditional Chinese Medicine (TCM) herbs added to platinum-based therapy (PBT) improve the Quality of Life (QOL) in metastatic non-small cell lung cancer (NSCLC) patients, but this must be prospectively validated.Patients and Methods: Based on clinical impressions regarding the effect of adding TCM herbs to platinum-based chemotherapy, we anticipated that 2 × 21 patients would be sufficient to obtain significant results with an α &lt; 0.05 and power (1 - β) of 90%. To be on the safe side, we enrolled at least 28 patients in each group. In a prospective randomized controlled trial, 61 uniquely defined consecutive patients (PBT+PLACEBO, N = 32; PB…

0301 basic medicinemedicine.medical_specialtyvomitingNauseamedicine.medical_treatmentTraditional Chinese medicinePlaceboGastroenterology03 medical and health sciences0302 clinical medicineQuality of lifeInternal medicineMedicineTraditional Chinese MedicinePharmacology (medical)Lung cancerOriginal ResearchPharmacologyChemotherapynon-small cellbusiness.industrylcsh:RM1-950medicine.diseasenauseaSurgerymetastaticClinical triallung cancer030104 developmental biologylcsh:Therapeutics. Pharmacology030220 oncology & carcinogenesisVomitingQuality of Lifemedicine.symptombusinessFrontiers in Pharmacology
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Off-Target-Based Design of Selective HIV-1 PROTEASE Inhibitors

2021

The approval of the first HIV-1 protease inhibitors (HIV-1 PRIs) marked a fundamental step in the control of AIDS, and this class of agents still represents the mainstay therapy for this illness. Despite the undisputed benefits, the necessary lifelong treatment led to numerous severe side-effects (metabolic syndrome, hepatotoxicity, diabetes, etc.). The HIV-1 PRIs are capable of interacting with “secondary” targets (off-targets) characterized by different biological activities from that of HIV-1 protease. In this scenario, the in-silico techniques undoubtedly contributed to the design of new small molecules with well-fitting selectivity against the main target, analyzing possible undesirabl…

0301 basic medicineon/off-targetsProtein ConformationComputer sciencemedicine.medical_treatmentHIV InfectionsLigands01 natural sciencesHIV ProteaseHIV-1 proteaseCatalytic DomainDrug DiscoveryBiology (General)DRUDITSpectroscopyMolecular StructurebiologyGeneral MedicineResearch processSmall moleculeComputer Science ApplicationsMolecular Docking SimulationChemistryligand-structure basedQH301-705.5NCI databaseComputational biologyArticleCatalysisInorganic ChemistryStructure-Activity Relationshipmolecular descriptors03 medical and health sciencesHIV-1 proteasemedicineHumansComputer SimulationPhysical and Theoretical ChemistryQD1-999Molecular BiologyVirtual screeningProteaseOrganic ChemistryHIV Protease Inhibitorsmolecular dockingvirtual screening0104 chemical sciences010404 medicinal & biomolecular chemistry030104 developmental biologyDrug DesignHIV-1biology.proteinInternational Journal of Molecular Sciences
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Modulating disease-relevant tau oligomeric strains by small molecules

2020

The pathological aggregation of tau plays an important role in Alzheimer's disease and many other related neurodegenerative diseases, collectively referred to as tauopathies. Recent evidence has demonstrated that tau oligomers, small and soluble prefibrillar aggregates, are highly toxic due to their strong ability to seed tau misfolding and propagate the pathology seen across different neurodegenerative diseases. We previously showed that novel curcumin derivatives affect preformed tau oligomer aggregation pathways by promoting the formation of more aggregated and nontoxic tau aggregates. To further investigate their therapeutic potential, we have extended our studies o disease-relevant bra…

0301 basic medicinetau oligomeric strainsCurcuminTau proteinsmall moleculetau ProteinsProtein aggregationBiochemistrytau proteinoligomerProgressive supranuclear palsyprotein aggregationDiagnosis DifferentialSmall Molecule Libraries03 medical and health scienceschemistry.chemical_compoundBiopolymersmental disordersmedicineHumansMolecular BiologyCells CulturedNeurons030102 biochemistry & molecular biologybiologyChemistryDementia with Lewy bodiesbrain-derived tau oligomerstau aggregationtauopathytoxicityBrainMolecular Bases of DiseaseCell Biologymedicine.diseaseSmall moleculeImaging agentCell biology030104 developmental biologyTauopathiesbiology.proteinCurcuminTauopathyThe Journal of Biological Chemistry
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