Search results for " Type II"

showing 10 items of 542 documents

Painful scar neuropathy: principles of diagnosis and treatment

2015

Nerve-tissue interactions are critical. Peripheral nerve injuries may involve intraneural and extraneural scar formation and affect nerve gliding planes, sometimes leading to complex clinical presentations. All of these pathological entities involve pain as the main clinical symptom and can be subsumed under the term "painful scar neuropathy". The authors review the literature on treatment approaches to peripheral nerve scar neuropathy and the outcomes of neurolysis-associated procedures and propose a simple classification and a therapeutic approach to scar neuropathy. The search retrieved twenty-one papers, twenty of which reported pain reduction or resolution with various techniques. Ther…

Painful scarLesion typemedicine.medical_specialtybusiness.industrySettore MED/19 - Chirurgia PlasticaLogical approachExtraneuralComplex regional pain syndrome type II painful neuropathy painful scar neuropathy scar neuritis traction neuropathySurgeryTherapeutic approachPeripheral nerveNeuropathic painMedicinebusinessPathological
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Familial hypercholesterolaemia: A global call to arms

2015

Familial Hypercholesterolaemia (FH) is the commonest autosomal co-dominantly inherited condition affecting man. It is caused by mutation in one of three genes, encoding the low-density lipoprotein (LDL) receptor, or the gene for apolipoprotein B (which is the major protein component of the LDL particle), or in the gene coding for PCSK9 (which is involved in the degradation of the LDL-receptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDL-cholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD) [1], [2] and [3]. If left untreated, the relative risk of premature coronary artery d…

PathologyApolipoprotein BDisease030204 cardiovascular system & hematologymedicine.disease_causeGlobal HealthDISEASEDoenças Cardio e Cérebro-vasculares0302 clinical medicineHyperlipoproteinemia Type IISocieties MedicalRISK0303 health sciencesMutationbiology3. Good healthPREVALENCEEuropelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineFamilial hypercholesterolaemiaLife Sciences & Biomedicinemedicine.medical_specialtyHeterozygote1102 Cardiovascular Medicine And HaematologyHyperlipoproteinemia Type II03 medical and health sciencesInternal medicinemedicineHumans030304 developmental biologyScience & Technologybusiness.industryGUIDANCEPCSK9Heterozygote advantage1103 Clinical SciencesEndocrinologyPeripheral Vascular DiseaseCardiovascular System & HematologyReceptors LDLRECEPTORES DE LIPOPROTEÍNASRelative riskMutationbiology.proteinCardiovascular System & CardiologyFamilial HypercholesterolaemiabusinessCLINICIANLipoprotein
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Endothelial nitric oxide synthase upregulation in the guinea pig organ of Corti after acute noise trauma.

2004

Endothelial nitric oxide synthase (eNOS) upregulation was identified 60 h after acute noise trauma in morphologically intact cells of the reticular lamina in the organ of Corti of the guinea pig in the second turn of the cochlea. Using gold-coupled anti-eNOS antibodies and electron microscopy, it was shown that eNOS expression was upregulated in all cell areas and cell types except inner hair cells. Furthermore, eNOS was found in the organelle-free cytoplasm and in mitochondria of various cell types. The density of eNOS in mitochondria was considerably higher compared with the surrounding cytoplasm. Since eNOS activity is regulated by calcium, the eNOS detection was combined with calcium pr…

Pathologymedicine.medical_specialtyCytoplasmNitric Oxide Synthase Type IIIGuinea Pigschemistry.chemical_elementCalciumMicrotubulesDownregulation and upregulationMicroscopy Electron TransmissionEnosStress PhysiologicalHair Cells AuditorymedicineAnimalsCalcium SignalingMolecular BiologyOrgan of CortiCytoskeletonbiologyGeneral NeuroscienceNitric Oxide Synthase Type IIIbiology.organism_classificationImmunohistochemistryCell biologyMitochondriaUp-RegulationNitric oxide synthaseActin CytoskeletonDisease Models Animalmedicine.anatomical_structureDrosophila melanogasterchemistryAcoustic StimulationHearing Loss Noise-InducedCytoplasmOrgan of Cortibiology.proteinCalciumNeurology (clinical)Nitric Oxide SynthaseNoiseIntracellularDevelopmental BiologyBrain research
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Hypothetical molecular mechanisms by which local iron overload facilitates the development of venous leg ulcers and multiple sclerosis lesions.

2008

Summary This paper presents a hypothetical model of role for iron in the development of venous leg ulcers and multiple sclerosis. Elevated concentrations of iron were found in the skin affected by venous hypertension and also in the areas of brain with multiple sclerosis lesions. Individuals with hemochromatosis gene (HFE) mutations: C282Y and H63D, which result in a less efficient transport of iron by macrophages, are characterized by an increased risk for venous leg ulcer and multiple sclerosis. Multiple sclerosis is a T cell-mediated disease, and T cells probably participate in the development of venous ulcers. This deleterious role of ferric ions could be related to the regulation of T …

Pathologymedicine.medical_specialtyIron OverloadMultiple SclerosisT cellT-LymphocytesDown-RegulationNitric Oxide Synthase Type IIApoptosisVenous leg ulcerModels BiologicalNitric oxideVaricose Ulcerchemistry.chemical_compoundDownregulation and upregulationMedicineAnimalsHumansReceptorReceptors Interferonbiologybusiness.industryMultiple sclerosisMacrophagesLeg UlcerGeneral MedicineModels Theoreticalmedicine.diseaseNitric oxide synthasemedicine.anatomical_structurechemistryApoptosisImmunologybiology.proteinNitric Oxide SynthasebusinessMedical hypotheses
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Post‐pneumonectomy Lung Deformation is Associated with Alveolar Type II Cell Apoptosis and Altered Parenchymal Mechanics

2015

Pathologymedicine.medical_specialtyLungbusiness.industrymedicine.medical_treatmentAnatomyDeformation (meteorology)BiochemistryPneumonectomymedicine.anatomical_structureApoptosisParenchymaGeneticsMedicineAlveolar type II cellbusinessMolecular BiologyBiotechnologyThe FASEB Journal
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Remodeling of peritoneal-like structures by mesothelial cells: its role in peritoneal healing.

1999

Abstract Background. Intraabdominal adhesions are a common complication following laparotomy. Since the exact mechanisms involved in this processes are unknown we have analyzed in vitro the role of mesothelial cells in peritoneal healing. Material and methods. Human mesothelial cells from omental tissue were cultivated for 2 weeks in a three-dimensional culture either on or in a collagen type I matrix. The effects of blood and collagen matrix were analyzed by exposing mesothelial cells to an overlying blood clot, simulating intraperitoneal bleeding, or a second collagen layer. The production of collagen types III and IV, fibronectin, and laminin was analyzed with immunohistochemical methods…

Pathologymedicine.medical_specialtyTissue AdhesionsMatrix (biology)BiologyPeritoneal DiseasesCollagen Type IIIPeritoneumLamininmedicineHumansCells CulturedWound HealingEpithelial CellsImmunohistochemistryExtracellular MatrixFibronectinsMesotheliumFibronectinmedicine.anatomical_structureCell culturebiology.proteinSurgeryCollagenPeritoneumMesothelial CellThe Journal of surgical research
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Spatial and temporal heterogeneity of ventilator-associated lung injury after surfactant depletion.

2008

Volutrauma and atelectrauma have been proposed as mechanisms of ventilator-associated lung injury, but few studies have compared their relative importance in mediating lung injury. The objective of our study was to compare the injury produced by stretch (volutrauma) vs. cyclical recruitment (atelectrauma) after surfactant depletion. In saline-lavaged rabbits, we used high tidal volume, low respiratory rate, and low positive end-expiratory pressure to produce stretch injury in nondependent lung regions and cyclical recruitment in dependent lung regions. Tidal changes in shunt fraction were assessed by measuring arterial Po2 oscillations. After ventilating for times ranging from 0 to 6 h, lu…

Pathologymedicine.medical_specialtyVentilator-associated lung injuryPhysiologyNitric Oxide Synthase Type IIInflammationEnzyme-Linked Immunosorbent AssayPulmonary EdemaRespiratory physiologyLung injuryPhysiology (medical)medicineAnimalsInterleukin 8LungChemokine CCL2PeroxidaseLungVentilators Mechanicalbusiness.industryRespiratory diseaseInterleukin-8Pulmonary SurfactantsLung Injuryrespiratory systemmedicine.diseasePulmonary edemarespiratory tract diseasesOxygenmedicine.anatomical_structureNeutrophil InfiltrationCalibrationRespiratory MechanicsCytokinesFluid TherapyFemaleRabbitsmedicine.symptomBlood Gas AnalysisChemokinesbusinessJournal of applied physiology (Bethesda, Md. : 1985)
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Methods for a prompt and reliable laboratory diagnosis of Pompe disease : report from an international consensus meeting

2008

Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It presents at any age, with variable rates of progression ranging from a rapidly progressive course, often fatal by one-year of age, to a more slowly, but nevertheless relentlessly progressive course, resulting in significant morbidity and premature mortality. In infants, early initiation of enzyme replacement therapy is needed to gain the maximum therapeutic benefit, underscoring the need for early diagnosis. Several new methods for measuring GAA activity have been developed. The Pompe Disease Diagnostic Working Group met to review data gener…

Pediatricsmedicine.medical_specialtyEndocrinology Diabetes and MetabolismDiseaseBiochemistryEarly initiationchemistry.chemical_compoundEndocrinologyInternal medicineGlycogen storage disease type IIGeneticsmedicineHumansMolecular BiologyAcarboseMuscle biopsyGlycogenmedicine.diagnostic_testClinical Laboratory TechniquesGlycogen Storage Disease Type IIbusiness.industryInfantEnzyme replacement therapymedicine.diseasePompe disease; laboratory diagnosisEndocrinologychemistryAcid alpha-glucosidaseGlucan 14-alpha-Glucosidasebusinessmedicine.drug
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Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

2021

AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…

Pediatricsmedicine.medical_specialtyGeneralized muscle weaknessDisease03 medical and health sciences0302 clinical medicineGenotypeHumansMedicineFamily historyRetrospective Studies030304 developmental biology0303 health sciencesGlycogen Storage Disease Type IIbusiness.industryHypertrophic cardiomyopathyMuscle weaknessalpha-GlucosidasesGeneral Medicinemedicine.disease3. Good healthPhenotypeJuvenile onsetMutationPediatrics Perinatology and Child HealthFailure to thriveNeurology (clinical)medicine.symptombusiness030217 neurology & neurosurgeryNeuropediatrics
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The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project

2019

Purpose of Review Familial hypercholesterolemia (FH) is often perceived and described as underdiagnosed and undertreated, though effective treatment of FH is available. Owing to the mentioned facts, it is ever more imperative to screen and treat FH patients. Subsequent to the identification of patients, the project focuses on the improvement of their prognoses. The ScreenPro FH project was established as a functional international network for the diagnosis, screening, and treatment of FH. Individual countries were assigned goals, e.g., to define the actual situation and available treatment. With “central support,” more centers and countries participated in the project. Subsequently, individ…

Pediatricsmedicine.medical_specialtyInternational CooperationFamilial hypercholesterolemiaFamilial hypercholesterolemia030204 cardiovascular system & hematologyTreatment resultsAntibodies Monoclonal HumanizedFHHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicineTotal cholesterolmedicineHumansMass ScreeningEffective treatment030212 general & internal medicineScreenPro FHLDL-CAlirocumabInternational networkEvidence-Based Medicine Clinical Trials and Their Interpretations (L. Roever Section Editor)business.industryAnticholesteremic AgentsIncidencePCSK9 InhibitorsScreen and treatmedicine.diseaseEvolocumab3. Good healthEuropeEvolocumabProprotein Convertase 9Cardiology and Cardiovascular MedicinebusinessDelivery of Health CareAlirocumabCurrent Atherosclerosis Reports
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