0000000000414080

AUTHOR

Harald Von Pein

showing 10 related works from this author

Chronic social defeat stress causes retinal vascular dysfunction

2021

Abstract Purpose The roles of vascular dysfunction and chronic stress have been extensively discussed in the pathophysiology of glaucoma. Our aim was to test whether chronic stress causes retinal vascular dysfunction and therewith induces retinal ganglion cells (RGCs) loss. Methods Twelve mice underwent chronic social defeat (CSD) stress, while 12 mice received control treatment only. Intraocular pressure (IOP) was measured with a rebound tonometer. Blood plasma corticosterone concentration and adrenal gland weight were used to assess stress levels. Brn-3a staining in retinas and PPD staining in optic nerve cross sections were conducted to assess the survival of RGCs and axons respectively.…

MaleRetinal Ganglion CellsIntraocular pressuremedicine.medical_specialtyCell SurvivalRetinal ArteryVideo RecordingVideo microscopyRetinal ganglionSocial DefeatMiceTonometry OcularCellular and Molecular Neurosciencechemistry.chemical_compoundRetinal DiseasesCorticosteroneInternal medicineAnimalsMedicineChronic stressIntraocular PressureTranscription Factor Brn-3ARetinaDisorder of Sex Development 46XYAdrenal Hyperplasia CongenitalEndothelin-1business.industryOptic NerveRetinalActinsSensory SystemsMice Inbred C57BLDisease Models AnimalOphthalmologyEndocrinologymedicine.anatomical_structurechemistryChronic DiseaseOptic nerveOcular Hypertensionsense organsCorticosteronebusinessStress PsychologicalExperimental Eye Research
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Correction: The genomic and clinical landscape of fetal akinesia

2020

Abstract An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Fetal akinesiabusiness.industryPublished ErratumHardware_INTEGRATEDCIRCUITSMEDLINEMedicineComputingMilieux_LEGALASPECTSOFCOMPUTINGComputerApplications_COMPUTERSINOTHERSYSTEMSHardware_PERFORMANCEANDRELIABILITYBioinformaticsbusinessGeneralLiterature_MISCELLANEOUSGenetics (clinical)Genetics in Medicine
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How to treat tumefactive demyelinating disease?

2013

Glioma-like inflammatory demyelinating lesions can be found in patients with pre-diagnosed multiple sclerosis, but they have also been described as an isolated disease entity. The initial diagnostic work-up usually includes a biopsy for histopathological analysis. However, even after unambiguous histopathologic classification, tumefactive lesions pose a therapeutic challenge. Until now, there have been no guidelines on how to treat patients with these rare and extreme lesion phenotypes. Here we report a patient with a relapsing unifocal tumefactive demyelinating lesion. The patient initially showed a good response to steroid treatment, with full clinical recovery. However, after relapse of…

Malemedicine.medical_specialtyPathologyTime FactorsBiopsymedicine.medical_treatmentDrug Administration ScheduleLesionRecurrenceInduction therapyBiopsymedicineDemyelinating diseaseHumansIn patientmedicine.diagnostic_testDrug Substitutionbusiness.industryMultiple sclerosisImmunosuppressionMiddle Agedmedicine.diseaseMagnetic Resonance ImagingRegimenTreatment OutcomeNeurologyDrug Therapy CombinationSteroidsNeurology (clinical)Radiologymedicine.symptombusinessImmunosuppressive AgentsDemyelinating DiseasesMultiple Sclerosis Journal
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Dynamics, alterations, and consequences of minimally invasive intraocular pressure elevation in rats.

2014

PURPOSE: An important, yet not exclusive, aspect of primary open angle glaucoma is elevated intraocular pressure (IOP) profiles within fluctuations and pressure peaks. The study aimed at establishing minimally invasive methods for recurrent IOP elevation in rats to investigate the impact of IOP dynamics and pathomorphologic retinal alterations during and after IOP elevation. METHODS: Intraocular pressure was elevated unilaterally in Long Evans rats to a level of ≈35 mm Hg for 1 hour in a total of 30 manipulations within 6 weeks, by using two methods: (1) suction-cup oculopression and (2) loop-adjusted oculopression. Retinal thickness (RT) was measured via optical coherence tomography (OCT),…

Retinal degenerationMaleRetinal Ganglion Cellsmedicine.medical_specialtyIntraocular pressuregenetic structuresOpen angle glaucomachemistry.chemical_compoundTonometry OcularOptical coherence tomographyOphthalmologymedicineAnimalsRats Long-EvansRetinal thinningIntraocular Pressuremedicine.diagnostic_testbusiness.industryRetinal DegenerationRetinalmedicine.diseaseeye diseasesRatsDisease Models Animalmedicine.anatomical_structureRetinal ganglion cellchemistryAnesthesiaOptic nerveDisease Progressionsense organsbusinessGlaucoma Open-AngleTomography Optical CoherenceFollow-Up StudiesInvestigative ophthalmologyvisual science
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Does granulocyte-colony stimulating factor stimulate peripheral nerve regeneration? An experimental study on traumatic lesion of the sciatic nerve in…

2021

Aim of the study. To analyse the therapeutic potential of granulocyte-colony stimulating factor (G-CSF) treatment using a rat model of traumatic sciatic nerve lesion. Clinical rationale for the study. G-CSF has proven strong neurotrophic properties in various models of ischaemic and traumatic brain injury. Fewer studies exist regarding the influence of G-CSF on posttraumatic peripheral nerve regeneration. Currently, the possibilities of pharmacological prevention or treatment of mechanical nerve injury are limited, and there is an urgent need to find new treatment strategies applicable in clinical situations. Material and methods . A controlled traumatic right sciatic nerve lesion was set u…

Traumatic brain injuryLesionGranulocyte Colony-Stimulating FactormedicineAnimalsHumansbiologybusiness.industrySciatic nerve injuryNerve injurymedicine.diseaseSpinal cordSciatic NerveGranulocyte colony-stimulating factorNerve RegenerationRatsDisease Models Animalmedicine.anatomical_structureAnesthesiabiology.proteinSurgeryNeurology (clinical)Sciatic nervemedicine.symptomSciatic NeuropathybusinessNeurotrophinGranulocytesNeurologia i neurochirurgia polska
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Distribution of the hematopoietic growth factor G-CSF and its receptor in the adult human brain with specific reference to Alzheimer's disease

2013

The granulocyte colony-stimulating factor (G-CSF), being a member of the hematopoietic growth factor family, is also critically involved in controlling proliferation and differentiation of neural stem cells. Treatment with G-CSF has been shown to result in substantial neuroprotective and neuroregenerative effects in various experimental models of acute and chronic diseases of the central nervous system. Although G-CSF has been tested in a clinical study for treatment of acute ischemic stroke, there is only fragmentary data on the distribution of this cytokine and its receptor in the human brain. Therefore, the present study was focused on the immunohistochemical analysis of the protein expr…

MaleHistologyHematopoietic growth factorCentral nervous systemNeuroprotectionAlzheimer DiseaseGranulocyte Colony-Stimulating FactormedicineHumansMolecular BiologyEcology Evolution Behavior and SystematicsAgedAged 80 and overNeuronsbiologyBrainOriginal ArticlesCell BiologyHuman brainMiddle AgedImmunohistochemistryNeural stem cellmedicine.anatomical_structureCase-Control StudiesReceptors Granulocyte Colony-Stimulating FactorImmunologybiology.proteinFemaleChoroid plexusAnatomyGranulocyte colony-stimulating factor receptorNeuroscienceDevelopmental BiologyNeurotrophinJournal of Anatomy
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Murine genetic deficiency of neuronal nitric oxide synthase (nNOS-/-) and interstitial cells of Cajal (W/Wv): Implications for achalasia?

2014

Background and aim Nitric oxide (NO) is an important inhibitory mediator of esophageal function, and its lack leads to typical features of achalasia. In contrast, the role of intramuscular interstitial cells of Cajal (ICC-IM) and vasoactive intestinal peptide (VIP) in lower esophageal sphincter (LES) function is still controversial. Therefore, we examined the function and morphology of the LES in vivo in NO-deficient (nNOS(-/-) ), ICC-IM-deficient (W/W(v) )-, and wild-type (WT) mice. Methods Esophageal manometry was performed with a micro-sized transducer catheter to quantify LES pressure, swallow evoked LES relaxation, and esophageal body motility. The LES morphology was examined by semiqu…

medicine.medical_specialtyHepatologybusiness.industryVasoactive intestinal peptideGastroenterologyMotilityAchalasiaInhibitory postsynaptic potentialmedicine.diseaseNitric oxideInterstitial cell of Cajalchemistry.chemical_compoundsymbols.namesakeEndocrinologychemistryIn vivoInternal medicineotorhinolaryngologic diseasesmedicinesymbolsbusinessNeuronal Nitric Oxide SynthaseJournal of Gastroenterology and Hepatology
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The genomic and clinical landscape of fetal akinesia

2020

International audience; Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood.Methods: In this study, 51 patients from 47 unrelated families were analyzed using next-generation sequencing (NGS) techniques aiming to decipher the genomic landscape of fetal akinesia (FA).Results: We have identified likely pathogenic gene variants in 37 cases and report 41 novel variants. Additionally, we report putative pathogenic variants in eight cases including nine novel variants. Our work identified 14 novel disease-gene associations for fetal akinesia: ADSSL1, ASAH1, ASPM, ATP2B3, EARS2, FBLN1, PRG4, PRICKLE1, ROR2, SETBP1…

MaleCandidate geneMyopathyVARIANTSFetal akinesiaMESH: Ryanodine Receptor Calcium Release Channel0302 clinical medicineMESH: ChildGuanine Nucleotide Exchange FactorsMESH: Guanine Nucleotide Exchange FactorsExomeCopy-number variationChildExomeMESH: High-Throughput Nucleotide SequencingGenetics (clinical)GeneticsArthrogryposisArthrogryposis0303 health sciencesMESH: Infant NewbornMESH: Genetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingRNA-Binding ProteinsMESH: Infant3. Good healthFetal DiseasesCopy-number variationMESH: Fetal DiseasesMESH: Young AdultChild PreschoolASAH1FemaleMESH: DNA Copy Number Variationsmedicine.symptomAdultGENETICSAdolescentDNA Copy Number VariationsMESH: Trans-ActivatorsMESH: ArthrogryposisBiologyASPMYoung Adult03 medical and health sciencesMuscular DiseasesmedicineHumansGenetic Predisposition to DiseaseGene030304 developmental biologyMESH: Adolescent[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/PediatricsMESH: HumansMUTATIONSMESH: Child PreschoolInfant NewbornMESH: Muscular DiseasesInfantNEMALINE MYOPATHYRyanodine Receptor Calcium Release ChannelMESH: Adultmedicine.diseaseCongenital myopathyMESH: MaleMESH: RNA-Binding Proteins[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsDISTAL ARTHROGRYPOSISTrans-ActivatorsMESH: Female030217 neurology & neurosurgery
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Retinal ganglion cell loss is accompanied by antibody depositions and increased levels of microglia after immunization with retinal antigens.

2012

BackgroundAntibodies against retinal and optic nerve antigens are detectable in glaucoma patients. Recent studies using a model of experimental autoimmune glaucoma demonstrated that immunization with certain ocular antigens causes an immun-mediated retinal ganglion cell loss in rats.Methodology/principal findingsRats immunized with a retinal ganglion cell layer homogenate (RGA) had a reduced retinal ganglion cell density on retinal flatmounts (p = 0.007) and a lower number of Brn3(+) retinal ganglion cells (p = 0.0001) after six weeks. The autoreactive antibody development against retina and optic nerve was examined throughout the study. The levels of autoreactive antibodies continuously in…

MaleRetinal Ganglion Cellsgenetic structuresGlaucomaAutoimmunityImmune PrivilegeAutoantigenschemistry.chemical_compoundNeurobiology of Disease and RegenerationImmune ResponseMultidisciplinaryCell DeathMicrogliaQRAnimal ModelsImmunizationsmedicine.anatomical_structureNeurologyRetinal ganglion cellOptic nerveMedicineMicrogliaImmunohistochemical AnalysisResearch ArticleHistologyImmune CellsScienceImmunologyImmunoglobulinsModel OrganismsAntigenmedicineAnimalsAntibody-Producing CellsBiologyAutoantibodiesRetinabusiness.industryImmunityAutoantibodyGlaucomaRetinalbiochemical phenomena metabolism and nutritionmedicine.diseaseeye diseasesRatsOphthalmologychemistryRats Inbred LewImmunologyImmunologic TechniquesNeuro-OphthalmologyRatClinical ImmunologyImmunizationsense organsbusinessNeurosciencePLoS ONE
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A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulat…

2011

Abstract We report a novel heteroplasmic point mutation G8299A in the gene for mitochondrial tRNA Lys in a patient with progressive external ophthalmoplegia complicated by recurrent respiratory insufficiency. Biochemical analysis of respiratory chain complexes in muscle homogenate showed a combined complex I and IV deficiency. The transition does not represent a known neutral polymorphism and affects a position in the tRNA acceptor stem which is conserved in primates, leading to a destabilization of this functionally important domain. In vitro analysis of an essential maturation step of the tRNA transcript indicates the probable pathogenicity of this mutation. We hypothesize that there is a…

MaleOphthalmoplegia Chronic Progressive ExternalRNA MitochondrialMitochondrial diseaseMolecular Sequence DataRespiratory chainBiologymedicine.disease_causeSecondary PreventionmedicineHumansPoint MutationGeneticsMutationBase SequenceTransition (genetics)Point mutationExternal ophthalmoplegiaMiddle Agedmedicine.diseaseHeteroplasmyNeurologyRespiratory failureRNARNA Transfer LysNeurology (clinical)Respiratory InsufficiencyJournal of the Neurological Sciences
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