Search results for "nerve"

showing 10 items of 1683 documents

Infantile neuroaxonal dystrophy: Diagnosis by skin biopsy

1991

A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have infantile neuroaxonal dystrophy (INAD). Beyond the age of two years, the EEG also entails characteristic findings. Diagnosis may be obtained by an ultrastructural examination of biopsied skin. The respective clinical and morphological findings are recorded and illustrated from four patients in this report.

MalePathologymedicine.medical_specialtyMuscle HypotoniaBiopsySural nerveInfantile neuroaxonal dystrophyDegenerative diseaseDevelopmental NeuroscienceBiopsyHumansMedicineSkinmedicine.diagnostic_testMental deteriorationbusiness.industryLeukodystrophyInfantPeripheral Nervous System DiseasesNeuromuscular DiseasesGeneral Medicinemedicine.diseaseChild PreschoolPediatrics Perinatology and Child HealthSkin biopsyFemaleNeurology (clinical)businessBrain and Development
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Reelin expression in human prostate cancer: a marker of tumor aggressiveness based on correlation with grade

2007

Reelin is a glycoprotein that plays a critical role in the regulation of neuronal migration during brain development and, since reelin has a role in the control of cell migration, it might represents an important factor in cancer pathology. In this study, 66 surgical specimens of prostate cancer were analyzed for reelin expression by immunohistochemical method. The reelin expression was correlated with Gleason score and individual Gleason patterns. Reelin expression was found in 39% prostate cancers. Stromal tissues, normal epithelial cells and prostate intraepithelial neoplasia (PIN) of any grade around and distant from cancer were always negative for reelin. Reelin was found in malignant …

MalePathologymedicine.medical_specialtyStromal cellCell Adhesion Molecules NeuronalNerve Tissue Proteinsurologic and male genital diseasesGleason Score 6Pathology and Forensic MedicineProstate cancerProstatereelinBiomarkers TumorcancerMedicineHumansReelinGleason scoreneoplasmsAgedAged 80 and overIntraepithelial neoplasiaExtracellular Matrix Proteinsprostatebiologybusiness.industrySerine EndopeptidasesCancerProstatic NeoplasmsMiddle Agedmedicine.diseaseImmunohistochemistryReelin Proteinsurgical procedures operativemedicine.anatomical_structurenervous systembiology.proteinImmunohistochemistrybusiness
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Changes of sonographic, magnetic resonance tomographic, electromyographic, and histopathologic findings within a 2-month period of examinations after…

1998

This study compares sonographical, histopathological, magnetic resonance imaging (MRI), and electromyographical (EMG) findings following acute muscle denervation. We performed an experimental denervation of the supraspinatus and infraspinatus muscles on 35 New Zealand white rabbits by segment resection of the suprascapular nerve. The sonographical appearance of the supraspinatus muscle was followed and documented at short time intervals within a 2-month follow-up period. The sonographical, histopathological, and MRI changes due to denervation suggest a regular pattern. Apart from the reduction of the muscle diameter, there were considerable sonographical signs of denervation with an increas…

MalePathologymedicine.medical_specialtySupraspinatus muscleElectromyographySensitivity and Specificity030218 nuclear medicine & medical imaging03 medical and health sciences0302 clinical medicinemedicineAnimalsOrthopedics and Sports MedicinePeripheral NervesUltrasonographyDenervationMuscle Denervationmedicine.diagnostic_testElectromyographybusiness.industryMagnetic resonance imagingGeneral MedicineAnatomySuprascapular nerveMagnetic Resonance ImagingMuscle DenervationMuscle atrophy3. Good healthMuscular Atrophymedicine.anatomical_structureSurgeryRabbitsmedicine.symptombusiness030217 neurology & neurosurgeryFollow-Up StudiesReinnervationArchives of Orthopaedic and Trauma Surgery
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Comparison of different quantification methods to determine hippocampal damage after cerebral ischemia

2014

Abstract Background Experimental stroke studies use multiple techniques to evaluate histopathological damage. Unfortunately, sensitivity and reproducibility of these techniques are poorly characterized despite pivotal influence on results. Method The present study compared several quantification methods to differentiate between two severities of global cerebral ischemia and reperfusion. Male Sprague-Dawley rats were randomized to moderate (10 min) or severe (14 min) ischemia by bilateral carotid occlusion (BCAO) with hemorrhagic hypotension. Neuronal cell count was determined in hippocampus at bregma −3.14 mm and −3.8 mm on day 3 and 28 post insult by counting neurons in the whole CA1 or in…

MalePathologymedicine.medical_specialtyTime FactorsIntracranial HypotensionIschemiaHippocampusCell CountNerve Tissue ProteinsBrain damageHippocampal formationSeverity of Illness IndexBrain IschemiaRats Sprague-DawleyBrain ischemiaRandom AllocationAnimalsMedicineColoring AgentsCA1 Region HippocampalStrokeFluorescent DyesNeuronsbiologyHistocytochemistrybusiness.industryGeneral NeuroscienceReproducibility of ResultsAntigens NuclearBregmaFluoresceinsmedicine.diseaseBenzoxazinesDisease Models Animalnervous systembiology.proteinmedicine.symptomNeuNbusinessIntracranial HemorrhagesJournal of Neuroscience Methods
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Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.

2014

The 15q13.3 heterozygous microdeletion is a fairly common microdeletion syndrome with marked clinical variability and incomplete penetrance. The average size of the deletion, which comprises six genes including CHRNA7, is 1.5 Mb. CHRNA7 has been identified as the gene responsible for the neurological phenotype in this microdeletion syndrome. Only seven patients with a homozygous microdeletion that includes at least CHRNA7, and is inherited from both parents have been described in the literature. The aim of this study was to further describe the distinctive eye manifestations from the analysis in the three French patients diagnosed with the classical 1.5 Mb homozygous microdeletion. Patients…

MalePathologymedicine.medical_specialtygenetic structuresalpha7 Nicotinic Acetylcholine ReceptorEncephalopathyTRPM Cation ChannelsChromosome DisordersBiologyBlindnessEyePupilNeuronal Ceroid-LipofuscinosesNight BlindnessSeizuresIntellectual DisabilityRetinal DystrophiesGeneticsmedicineElectroretinographyMyopiaHumansEye AbnormalitiesChildGenetics (clinical)TRPM1Genetic Association StudiesCongenital stationary night blindnessGeneticsChromosomes Human Pair 15DystrophyEye Diseases HereditaryGenetic Diseases X-LinkedOptic NerveMicrodeletion syndromemedicine.diseasePenetranceChild PreschoolFemalesense organsDifferential diagnosisChromosome DeletionAmerican journal of medical genetics. Part A
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

2021

Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access) PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed to delineate the female and male phenotypic spectrum of NEXMIF encephalopathy. METHODS: Through an international collaboration, we analyzed the phenotypes and genotypes of 87 patients with NEXMIF encephalopathy. RESULTS: Sixty-three females and 24 males (46 new patients) with NEXMIF encephalopathy were studied, with 30 novel variants. Phenotypic features included developmental delay/ID in 86/87 (99%), seizures in 71/86 (83%) and multiple comorbidi…

MalePediatricsmedicine.medical_specialtyINTELLECTUAL DISABILITYAutism Spectrum DisorderEncephalopathyNerve Tissue ProteinsILAE COMMISSIONMOSAICISMEpilepsy/geneticsCLASSIFICATIONEpilepsyBrain Diseases/geneticsGenes X-LinkedSeizuresIntellectual disabilityGenotypemedicineHumansdevelopmental and epileptic encephalopathyMYOCLONIAAtonic seizureGenetics (clinical)Brain Diseasesddc:618Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]KIAA2022business.industryMUTATIONSmedicine.diseasePhenotypeAutism Spectrum Disorder/geneticsGenes X-Linked/geneticsAutism spectrum disorderintellectual disabilityNEXMIFAutismepilepsyFemaleINACTIVATIONHuman medicineSeizures/geneticsbusinessPOSITION PAPERGenetics in Medicine
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An intrinsic neuronal-like network in the rat pineal gland

1999

Recent studies have shown that in rat pineal glands kept in vitro action potential-producing cell clusters are demonstrable. To test whether the clusters interact, multiple-unit recordings were carried out simultaneously from different clusters, with or without electrical stimulation. Clusters with rhythmic burst activity exhibit highly synchronized firing and electrical stimulation of one cluster elicits an immediate response in another one, apparently involving synapses but not gap junctions. It is hypothesized that the interacting clusters form a network. As the firing is affected by norepinephrine, acetylcholine and Ca2+, the network may monitor the interstitial concentrations of these …

MalePeriodicityCellStimulationBiologyPineal GlandRats Sprague-DawleyNorepinephrinemedicineAnimalsMolecular BiologyCell AggregationNeuronsGeneral NeuroscienceGap junctionGap JunctionsElectric StimulationIn vitroRatsElectrophysiologyElectrophysiologymedicine.anatomical_structureSynapsesNeurology (clinical)Nerve NetNeuroscienceAcetylcholineDevelopmental Biologymedicine.drugEndocrine glandBrain Research
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Transcriptional induction of the fatty acid binding protein gene in mouse liver by bezafibrate

1993

AbstractThe mechanism by which hypolipidemic peroxisome proliferators of the fibrate family induce the liver fatty acid binding protein in liver of rodents is unknown. In order to delineate the level at which this protein is induced, the transcriptional activity of the specific gene encoding for liver fatty acid binding protein was measured in isolated hepatocyte nuclei obtained from male Swiss mice daily force-fed during 7 days with 400 mg/kg body weight bezafibrate. This treatment induced a 4-fold increase in the liver fatty acid binding protein transcription rate. Liver fatty acid binding protein mRNA level, measured by Northern blot analysis and cytosolic content of this protein, analyz…

MalePeroxisome proliferator activated receptorTranscription GeneticImmunoblottingBiophysicsPeroxisome proliferator-activated receptorNerve Tissue ProteinsFatty Acid-Binding ProteinsPeroxisome proliferator hypolipidemic drugBiochemistryFatty acid-binding proteinMiceStructural BiologyGeneticsmedicineAnimalsRNA Messengeradipocyte protein 2Molecular Biologychemistry.chemical_classificationLiver fatty acid binding proteinBezafibratebiologyBinding proteinBody WeightCell BiologyOrgan SizePeroxisomeBlotting NorthernMolecular biologyLipidsNeoplasm ProteinsGene regulationFatty acid synthasechemistryBiochemistryGene Expression RegulationLiverbiology.proteinElectrophoresis Polyacrylamide GelPeroxisome proliferator-activated receptor alphaBezafibrateCarrier ProteinsDNA ProbesFatty Acid-Binding Protein 7medicine.drugFEBS Letters
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Free Bipedicled Radial Forearm and Posterior Interosseous Artery Perforator Flap Phalloplasty

2019

Abstract Introduction The free radial forearm (FRFA) flap is universally still considered as the gold standard technique in penile reconstruction. Typically, a considerably large flap is required, often involving almost the entire circumference of the forearm. Partial necrosis may occur at the distal-most (dorsoradial) part of the flap as a result of insufficient perfusion. Aim To describe a new technique using the posterior interosseous artery (PIOA) to supercharge FRFA phalloplasty. Methods In a 12-month period, all patients having FRFA flap phalloplasty were enrolled. Perioperative, after complete flap dissection, an indocyanine green perfusion scan was performed. In case of insufficient…

MalePhalloplastymedicine.medical_specialtyUrologyEndocrinology Diabetes and MetabolismFistula030232 urology & nephrologySettore MED/19 - Chirurgia PlasticaPerfusion scanningAnastomosisPenile Reconstruction03 medical and health sciencesPostoperative Complications0302 clinical medicineEndocrinologyUrethraForearmmedicine.arterymedicineSex Reassignment SurgeryHumansPenile Reconstruction; Phalloplasty; Sex Reassignment Surgery; Transmen030219 obstetrics & reproductive medicinebusiness.industryArteriesmedicine.diseaseSurgeryPosterior interosseous arteryForearmPsychiatry and Mental healthStenosisPosterior interosseous nervemedicine.anatomical_structureReproductive MedicineTransmenFemalePhalloplastybusinessPerforator FlapPenis
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Phenytoin-induced glutathione depletion in rat peripheral nerve

1995

Abstract Administration of high doses (150–250 mg/kg body weight) of phenytoin (DPH) promote a 40% decrease in glutathione (GSH) content of rat sciatic nerve. This DPH-induced GSH depletion is accompanied with an electrophysiological impairment of peripheral neuromuscular function. H7 (20 mg/kg body weight IP, 30 min prior to DPH), a protein kinase C inhibitor, was able to prevent the DPH-induced GSH depletion only at the lower DPH dose used. This same inhibitor completely prevented the electrophysiological impairment at the lower DPH dose, and only partially at the higher DPH dose used. These results confirm the hypothesis of a DPH-dependent activation of PKC (that might be triggered by, o…

MalePhenytoinAntioxidantmedicine.medical_treatmentAction PotentialsIn Vitro TechniquesPharmacologymedicine.disease_causeBiochemistryPiperazineschemistry.chemical_compound1-(5-Isoquinolinesulfonyl)-2-MethylpiperazinePhysiology (medical)polycyclic compoundsmedicineAnimalsEnzyme InhibitorsRats WistarMuscle SkeletalEvoked PotentialsProtein Kinase CProtein kinase CMotor NeuronsAnalysis of Variancetechnology industry and agricultureNeurotoxicityGlutathioneIsoquinolinesmedicine.diseaseGlutathioneSciatic NerveRatsKineticschemistryBiochemistryPhenytoinAnticonvulsantslipids (amino acids peptides and proteins)Sciatic nerveOxidative stressIntracellularmedicine.drugFree Radical Biology and Medicine
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