Search results for "DAS"

showing 10 items of 4164 documents

Changes of Expression of Intermediate Filament Proteins During Ontogenesis of Eccrine Sweat Glands

1992

The intermediate filament expression in fetal and adult human eccrine sweat glands was studied by immunoperoxidase microscopy performed on cryostat sections using monoclonal antibodies against various cytokeratins (CK), vimentin, and actin. In palmar skin of 14-week-old fetuses, the early dermal cords showed a primitive CK pattern similar to that of epidermal basal cells. From week 15 on (distal finger skin), inner cells of the proximal (ductal) portion of the glandular anlagen expressed CK 1/10/11 and 19 (markers of adult eccrine ductal luminal cells). In addition, CK 4 was expressed in ductal luminal cells mainly in the fetal period. In the distal portion of the sweat gland anlagen the in…

AdultPathologymedicine.medical_specialtyVimentinDermatologyBiochemistryEmbryonic and Fetal DevelopmentBasal (phylogenetics)Intermediate Filament ProteinsSweat glandmedicineHumansIntermediate filamentMolecular BiologyActinSkinImmunoperoxidasebiologyInfant NewbornMyoepithelial cellInfantCell BiologyMiddle AgedGlandular CellSweat Glandsmedicine.anatomical_structurebiology.proteinJournal of Investigative Dermatology
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Current state of clinical and morphological features in human NCL.

2004

The neuronal ceroid lipofuscinoses (NCL) are large group of autosomal recessive lysosomal storage disorders with both enzymatic deficiency and structural protein dysfunction. Previously, diagnosis of (NCL) was based on age at onset clinicopathological (C‐P) findings described 4 forms, classified as infantile (INCL) (2), late‐infantile (LINCL) (5), juvenile (JNCL) (6), and adult (ANCL) most patients with NCL have progressive ocular and cerebral dysfunvtion, including cognitive/motor dysfunction and uncontrolled seizures. After reviewing 520 patients with NCL, we found that about 104 (20%) did not fit this classification of NCL With further research, 4 additional forms have been recognized: F…

AdultPathologymedicine.medical_specialtymedicine.disease_causeArticlePathology and Forensic MedicineEpilepsyNeuronal Ceroid-LipofuscinosesGenotypemedicineHumansPalmitoyl protein thioesteraseAge of OnsetChildInclusion BodiesMutationbiologyTripeptidyl-Peptidase 1General NeurosciencePPT1Infantmedicine.diseasePhenotypeCLN8Child PreschoolMutationbiology.proteinNeurology (clinical)Age of onsetBrain pathology (Zurich, Switzerland)
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Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

2003

In individuals with non-neuronopathic Gaucher disease, childhood manifestations are usually predictive of a more severe phenotype. Although children with Gaucher disease are at risk of irreversible disease complications, early intervention with an optimal dose of enzyme therapy can prevent the development of complications and ensure adequate, potentially normal, development through childhood and adolescence. Very few, if any, children diagnosed by signs and symptoms should go untreated. Evidence suggests that disease severity, disease progression and treatment response in different organs where glucocerebroside accumulates are often non-uniform in affected individuals. Therefore, serial mon…

AdultPediatricsmedicine.medical_specialtyConsensusBone diseaseAdolescentGenotypeAnemiaHepatosplenomegalyDiseaseGlucocerebrosideCentral nervous system diseaseQuality of lifemedicineHumansChildAgedGaucher Diseasebusiness.industryAge FactorsInfantMiddle Agedmedicine.diseasenon-neuronopathic Gaucher diseaseChild PreschoolPediatrics Perinatology and Child HealthImmunologyQuality of Lifemedicine.symptombusinessGlucocerebrosidaseEuropean journal of pediatrics
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Natural Proteolytic Processing of Hemofiltrate Cc Chemokine 1 Generates a Potent Cc Chemokine Receptor (Ccr)1 and Ccr5 Agonist with Anti-HIV Properti…

2000

Hemofiltrate CC chemokine (HCC)-1 is a recently described human chemokine that is constitutively expressed in numerous tissues and is present at high concentrations in normal plasma. Using a cell line expressing CC chemokine receptor (CCR)5 as a bioassay, we isolated from human hemofiltrate an HCC-1 variant lacking the first eight amino acids. HCC-1[9–74] was a potent agonist of CCR1, CCR3, and CCR5 and promoted calcium flux and chemotaxis of T lymphoblasts, monocytes, and eosinophils. It also blocked entry of HIV-1 strains using CCR5 as coreceptor. Limited tryptic digestion of HCC-1 generated the active variant. Conditioned media from several tumor cell lines activated HCC-1 with a high ef…

AdultReceptors CCR5Anti-HIV AgentsReceptors CCR3Molecular Sequence DataImmunologyReceptors CCR1C-C chemokine receptor type 6BiologyChemokine receptorEndopeptidasesHumansImmunology and AllergyCCL17Amino Acid SequenceCalcium SignalingCCL15CCL13endopeptidaseChemotactic FactorsHIVBlood ProteinsMolecular biologyPeptide FragmentsChemotaxis LeukocyteBiochemistryChemokines CCCulture Media ConditionedXCL2Biological AssayReceptors ChemokineOriginal ArticleCC chemokine receptorsProtein Processing Post-TranslationalCCL21Journal of Experimental Medicine
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Scheie syndrome: enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.

2009

Hurler-Scheie syndrome is caused by alpha-l-iduronidase deficiency. Enzyme replacement therapy (ERT) can improve physical capacity and reduces organomegaly. However, the effect on bradytrophic connective tissue is limited. As intravenously administered enzyme cannot cross the blood-brain barrier, the therapy of choice for the more severe Hurler syndrome is haematopoietic stem cell transplantation (HCT). In the more attenuated Scheie syndrome, neurological impairment is less severe; therefore, ERT may be appropriate to treat these patients. Information on long-term outcome in Scheie patients undergoing ERT is scarce. We report a 38-year-old female Scheie patient who has been on ERT for 8 yea…

Adultcongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyMucopolysaccharidosis IMyelopathyIduronidaseSpinal cord compressionMucopolysaccharidosis IGeneticsmedicineHumansEnzyme Replacement TherapyHurler syndromeGenetics (clinical)business.industryHematopoietic Stem Cell Transplantationnutritional and metabolic diseasesBrainEnzyme replacement therapymedicine.diseaseSpinal cordSurgeryTransplantationmedicine.anatomical_structureCervical VertebraeDisease ProgressionFemaleScheie syndromebusinessSpinal Cord CompressionJournal of inherited metabolic disease
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The role of thrombophilia and thyroid autoimmunity in unexplained infertility, implantation failure and recurrent spontaneous abortion.

2007

The role of thrombophilia and thyroid autoimmunity in unexplained infertility (UI), implantation failure (IF) and recurrent spontaneous abortion (RSA) is controversial and poorly understood.From March, 2004 to January, 2007, 119 women were prospectively included: 32 oocyte donors, 31 patients with UI, 26 with IF and 30 with RSA. The IF and RSA groups presented normal preimplantation genetic screening. Protein C, protein S, antithrombin III, lupus anticoagulant, activated protein C resistance (APCR), immunoglobulin M and G anticardiolipin antibodies, homocystine, Factor V Leiden, prothrombin G20210A mutation, methylentetrahydrofolate reductase C677T mutation, thyroid-stimulating hormone (TSH…

Adultendocrine systemmedicine.medical_specialtyAbortion Habitualmedicine.medical_treatmentThyroid GlandAutoimmunityThrombophiliaGastroenterologyIodide PeroxidaseThyroglobulinAntiphospholipid syndromeInternal medicinemedicineFactor V LeidenPrevalenceHumansThrombophiliaEmbryo ImplantationProspective StudiesUnexplained infertilityActivated Protein C ResistanceAutoantibodiesLupus anticoagulantbusiness.industryRehabilitationThyroidObstetrics and Gynecologymedicine.diseaseEndocrinologymedicine.anatomical_structureReproductive MedicineLupus Coagulation InhibitorThyroglobulinFemaleActivated protein C resistancebusinessInfertility FemaleHuman reproduction (Oxford, England)
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Subclinical hypothyroidism resulting from autoimmune thyroiditis in female patients with endogenous depression.

1994

Thyroid function and presence of thyroid autoantibodies were assessed in a group of 75 consecutive female patients with mood disturbances and in a group of 38 healthy women of similar age recruited as controls. Nine patients suffered from major (endogenous) depression and 66 from minor (neurotic) depression. The individual patients had normal values of circulating thyroid hormones. Nevertheless, endogenously depressed patients had total serum triiodothyronine (M±SE=1.49±0.09 nmol/l) and both total (83.9±4.3 nmol/l) and free serum thyroxine (13.9±1.1 pmol/l) lower than in the group of minor depressed and in the group of controls (p<0.01, in both comparison). The median value of serum thyrotr…

Adultendocrine systemmedicine.medical_specialtyendocrine system diseasesEndocrinology Diabetes and Metabolismmedicine.medical_treatmentThyrotropinThyroid function testsThyroglobulinThyroiditisAutoimmune thyroiditisEndocrinologyHypothyroidismThyroid peroxidaseInternal medicinemedicineHumansAgedAutoantibodiesDepressive DisorderTriiodothyroninebiologymedicine.diagnostic_testbusiness.industryThyroiditis AutoimmuneMiddle Agedmedicine.diseaseAnti-thyroid autoantibodiesEndocrinologybiology.proteinThyroglobulinFemaleThyroid functionbusinessJournal of endocrinological investigation
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Possible link between Hashimoto's thyroiditis and oral lichen planus: a novel association found

2013

Objectives: Hashimoto's thyroiditis as well as lichen planus has been associated to a number of disorders, generally of auto-immune origin. A novel possible association between oral lichen planus (OLP) and Hashimoto's thyroiditis (HT) is here proposed on the basis of a cross-sectional survey. Materials and methods: One hundred and five unrelated OLP patients were considered. Diagnosis of HT was based on positive serum anti-TPO, anti-Tg, TSH levels and the typical ultrasound pattern of the thyroid gland. Results: In the present survey, the prevalence of HT in the OLP group was 14. 3 % whereas the prevalence of HT-related hypothyroidism in the general population was reported to be equal to 1 …

Adultendocrine systemmedicine.medical_specialtyendocrine system diseasesPopulationThyrotropinAutoimmunityHashimoto Diseasemedicine.disease_causeAutoantigensIodide PeroxidaseGastroenterologyAsymptomaticThyroiditisAutoimmunityHashimoto's thyroiditistomatognathic systemSettore MED/28 - Malattie OdontostomatologicheIron-Binding ProteinsInternal medicinePrevalencemedicineHumansThyroid NoduleOral mucosaeducationGeneral DentistryAutoantibodieseducation.field_of_studybusiness.industryThyroidMiddle AgedCirculating thyroid antibodiesmedicine.diseaseAnti-thyroid autoantibodiesThyroxinestomatognathic diseasesCross-Sectional Studiesmedicine.anatomical_structureItalyOral lichen planuHashimoto's thyroiditis; Oral lichen planus; Autoimmunity; Circulating thyroid antibodiesTriiodothyronineFemaleOral lichen planusmedicine.symptombusinessLichen Planus OralClinical Oral Investigations
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Activities of some antioxidative and hexose monophosphate shunt enzymes of skeletal muscle in neuromuscular diseases.

1986

The activities of some antioxidative and hexose monophosphate shunt enzymes, as well as of 2 hydrolases were studied in skeletal muscle biopsy specimens taken from 39 patients with neuromuscular diseases and from 15 controls. The activity of Se-dependent glutathione peroxidase was higher in patients with congenital myotonia, whereas in the other diagnostic groups this enzyme activity was the same as in the controls. The Se-independent and total glutathione peroxidase activity of patients in the various diagnostic groups did not differ from the controls. Moreover, no difference were observed in catalase activity between the patient groups and the controls. The activities of the rate limiting…

Adultmedicine.medical_specialtyAdolescentDehydrogenasePentose phosphate pathwayGlucosephosphate DehydrogenaseInternal medicineAcetylglucosaminidasemedicineHumansAgedchemistry.chemical_classificationGlutathione PeroxidaseMuscle biopsybiologymedicine.diagnostic_testGlutathione peroxidaseMusclesPhosphogluconate DehydrogenaseSkeletal muscleGeneral MedicineNeuromuscular DiseasesSyndromeMiddle AgedCatalaseEnzyme assayMuscle atrophymedicine.anatomical_structureEndocrinologyNeurologychemistrybiology.proteinNeurology (clinical)medicine.symptomPeroxidasePeptide HydrolasesActa neurologica Scandinavica
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Comparison of the immunogenicity and safety ofCervarix™ andGardasil®human papillomavirus (HPV) cervical cancer vaccines in healthy women aged 18–45 y…

2009

This observer-blind study compared the prophylactic human papillomavirus (HPV) vaccines, Cervarix (GlaxoSmithKline) and Gardasil (Merck), by assessing immunogenicity and safety through one month after completion of the three-dose vaccination course. Women (n = 1106) were stratified by age (18-26, 27-35, 36-45 years) and randomized (1:1) to receive Cervarix (Months 0, 1, 6) or Gardasil (Months 0, 2, 6). At Month 7 after first vaccination, all women in the according-to-protocol cohort who were seronegative/DNA negative before vaccination for the HPV type analyzed had seroconverted for HPV-16 and HPV-18 serum neutralizing antibodies, as measured by pseudovirion-based neutralization assay (PBNA…

Adultmedicine.medical_specialtyAdolescentImmunologyAntibodies ViralCancer VaccinesSerologyYoung AdultHuman Papillomavirus Recombinant Vaccine Quadrivalent Types 6 11 16 18Neutralization TestsInternal medicinemedicineHumansPapillomavirus VaccinesGeneral Pharmacology Toxicology and PharmaceuticsNeutralizing antibodyPapillomaviridaeCervical cancerbiologybusiness.industryImmunogenicityGardasilPapillomavirus InfectionsMiddle Agedmedicine.diseaseAntibodies NeutralizingVaccinationImmunologyCohortbiology.proteinFemaleCervarixbusinessmedicine.drugHuman Vaccines
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