Search results for "pathology [Bladder Exstrophy]"

showing 10 items of 1717 documents

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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Cell Death and Oxidative Damage in Inflammatory Myopathies

1998

There is evidence that muscle fibers in denervating disorders and muscular dystrophies undergo apoptosis. In 21 patients with autoimmune inflammatory myopathies, we found no features of muscle fiber apoptosis such as DNA fragmentation or expression of apoptosis-related proteins. However, muscle fibers in myositis displayed distinct up-regulation of inducible and neuronal nitric oxide synthase (NOS). While inducible NOS was distinctly up-regulated on the sarcolemma of all kinds of muscle fibers neuronal NOS displayed increased expression in the sarcoplasm of damaged as well as atrophic muscle fibers. There were no disease-specific patterns in the different myositis subtypes. Enhanced express…

AdultProgrammed cell deathNecrosisAdolescentImmunologySarcoplasmNitric Oxide Synthase Type IIApoptosisNitric Oxide Synthase Type IDermatomyositisMyositis Inclusion BodyPathology and Forensic MedicineMiceReference ValuesMuscle fiber necrosismedicineAnimalsHumansImmunology and AllergyChildMuscle SkeletalMyositisAgedSarcolemmaCell DeathbiologyInfantDNAMiddle Agedmedicine.diseasePolymyositisCell biologyNitric oxide synthaseOxidative StressApoptosisChild PreschoolImmunologybiology.proteinRabbitsNitric Oxide Synthasemedicine.symptomClinical Immunology and Immunopathology
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Ultrastructural pathology in emetine-induced myopathy

1988

Progressive myopathy developed in two women who consumed ipecac syrup containing emetine hydrochloride to induce vomiting as part of their anorexia nervosa. Muscle biopsy specimens were characterized by severe disruption of the sarcomeres. The ultrastructural spectrum extended from "Z-band streaming" to the formation of cytoplasmic bodies and also comprised abnormalities of the sarcotubular system, thus suggesting that muscle weakness may be related to both sarcomeric and sarcotubular lesions in this self-inflicted myopathy. It is tempting to suggest that muscle weakness may be correlated with or based on the pathology in sarcomeres and the sarcotubular system. As the myopathy is clinically…

AdultSarcomeresPathologymedicine.medical_specialtyAnorexia NervosaSubstance-Related DisordersEmetineEmetine HydrochlorideEmetineBiologySarcomereUltrastructural PathologyPathology and Forensic MedicineCellular and Molecular NeuroscienceMuscular DiseasesmedicineHumansMyopathyMuscle biopsymedicine.diagnostic_testMusclesMuscle weaknessMitochondriaSarcoplasmic ReticulumAnorexia nervosa (differential diagnoses)FemaleNeurology (clinical)medicine.symptommedicine.drugActa Neuropathologica
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Immunohistochemical expression of ubiquitin and telomerase in cervical cancer

2009

Artículo publicado en: Virchows Arch (2009) 455:235–243. DOI 10.1007/s00428-009-0818-7 Ubiquitin and telomerase immunohistochemical expression patterns in cervical cancer were compared with normal cervical tissue samples. Eighty-one cervical cancer cases and 22 normal exo–endocervical tissue were examined with polyclonal antibody for ubiquitin and 44G12 clone for telomerase using tissue microarrays. The results were interpreted using a semiquantitative scale The average age of patients was 50.67 years. The most frequent histological types were moderately differentiated epidermoid carcinoma (43.5%), according to the degree of differentiation, and endocervical adenocarcinoma (42.1%). Immunohi…

AdultTelomerasePathologymedicine.medical_specialtyBiologíaClone (cell biology)Uterine Cervical NeoplasmsCervix UteriBiologyPathology and Forensic MedicineUbiquitinBiomarkers TumormedicineHumansPapillomaviridaeTelomeraseMolecular BiologyAgedCervical cancerTissue microarrayUbiquitinCancerArtículosCell BiologyGeneral MedicineMiddle AgedFacultad de Farmacia y Bioanálisismedicine.diseaseImmunohistochemistryImmunohistochemical expressionEpidermoid carcinomaTissue Array AnalysisCervical cancerbiology.proteinImmunohistochemistryFemaleVirchows Archiv
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Strontium90 for determination of time since death

1999

Strontium90 (Sr90) is an artificial nuclear fission product of the atmospheric a-bomb testing between 1945 and 1979. It was spread throughout the atmosphere in the following years. Sr90 is an analogue to calcium and therefore enriched in human bones. Several studies especially in the 1960s and 1970s were undertaken to investigate the Sr90 burden and the resulting incorporated radiation in humans, but present studies are missing. In this study nine bone samples, three from 1931/32 and six from 1989 to 1994 were examined by measuring the Sr90 radiation. The samples from 1931/32 did not show any Sr90 activity. All the samples from 1989 and later showed a Sr90 activity, but the intensity was ve…

AdultTime since deathAdolescentSpecific timePhysiologyHuman boneBiologyBone and BonesTimePathology and Forensic MedicineRadioactive contaminationGeneticsHumansChildbusiness.industryPublic Health Environmental and Occupational HealthForensic MedicineMiddle AgedDeathPsychiatry and Mental healthAge estimationStrontium RadioisotopesNuclear medicinebusinessLawStrontium-90Forensic Science International
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Mitochondrial disruption and apoptosis in lymphocytes of an HIV infected patient affected by lactic acidosis after treatment with highly active antir…

2003

Aims: Highly active antiretroviral therapy (HAART) can induce an increase in lactic acid concentrations that seems to be caused by mitochondrial dysfunction induced by the interaction of nucleoside reverse transcriptase inhibitors (NRTIs) with DNA polymerase γ in the mitochondria. Mitochondrial alterations have been described in liver and muscle cells of NRTI treated human immunodeficiency virus (HIV) infected patients. Because lymphocytes are the main target for HIV and because mitochondria are involved in apoptosis, we studied mitochondrial morphology and apoptosis in the lymphocytes of an HIV infected patient with severe lactic acidosis after treatment with stavudine, didanosine, and ind…

Adultmedicine.medical_specialtyAnti-HIV AgentsLymphocyteApoptosisHIV InfectionsCase ReportsMitochondrionBiologyPathology and Forensic Medicinechemistry.chemical_compoundimmune system diseasesIndinavirAntiretroviral Therapy Highly ActiveInternal medicinemedicineHumansLymphocytesDidanosineAcridine orangeStavudinevirus diseasesGeneral Medicinemedicine.diseaseMitochondriaEndocrinologymedicine.anatomical_structurechemistryApoptosisLactic acidosisImmunologyAcidosis LacticFemalemedicine.drugJournal of Clinical Pathology
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A further patient with genitopatellar syndrome requiring multidisciplinary management.

2020

Adultmedicine.medical_specialtyMEDLINEKidneyPathology and Forensic MedicineCraniofacial AbnormalitiesMultidisciplinary approachIntellectual DisabilitymedicineHumansGenetic TestingIntensive care medicineChildGenetics (clinical)Histone AcetyltransferasesPatient Care Teambusiness.industryDisease ManagementFaciesGeneral MedicineExonsPatellamedicine.diseaseCombined Modality TherapyRadiographyPhenotypeTreatment OutcomeUrogenital AbnormalitiesPediatrics Perinatology and Child HealthMutationScrotumGenitopatellar syndromeFemaleInterdisciplinary CommunicationAnatomyPsychomotor DisordersbusinessClinical dysmorphology
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Intraductal proliferation in the pancreas and its relationship to human and experimental carcinogenesis

1980

In 21 patients who had undergone total pancreatectomy for pancreatic head carcinoma, the uninvolved pancreas was examined with regard to the type, incidence and regional distribution of duct epithelial proliferation. The results were compared with those in 37 operative specimens from patients with chronic pancreatitis, in 46 normal pancreases from autopsies and with findings in experimental pancreatic carcinogenesis. While the incidence of squamous metaplasia and non-papillary epithelial hypertrophy varied little in the different groups, papillary epithelial hyperplasia was found three times more often in cases of carcinoma, with associated mild duct obstruction. Atypical epithelial prolife…

Adultmedicine.medical_specialtyNitrosaminesHistologyGastroenterologyPathology and Forensic MedicinePancreatectomyCricetinaeInternal medicineCarcinomamedicineAnimalsHumansMolecular BiologyPancreatic ductAtypical small acinar proliferationHyperplasiamedicine.diagnostic_testbusiness.industryPancreatic DuctsCell BiologyGeneral MedicineMiddle Agedmedicine.diseaseSquamous metaplasiaPancreatic Neoplasmsmedicine.anatomical_structurePancreatitisChronic DiseasePancreatitisFemaleCA19-9AnatomyPancreasbusinessDuct (anatomy)Virchows Archiv A Pathological Anatomy and Histology
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Quantitative morphometric analysis of the submucous plexus in age-related control groups.

2002

An increased number and density of the so-called “giant ganglia” (seven or greater ganglion cells per ganglion) serve as histopathological criteria for a bowel motility disorder called intestinal neuronal dysplasia of the submucous plexus (IND B). However, because these morphological criteria have been defined based upon observations in constipated patients, the diagnostic value of previous studies is open to controversy. Moreover, no age-related reference data from unaffected controls are available. This study reports on data from unaffected controls on the variability of size and distribution of ganglia in the submucous plexus during development. Therefore, for the first time, the normal …

Adultmedicine.medical_specialtyPathologyAgingAdolescentGestational AgeBiologyPathology and Forensic MedicineAge relatedmedicineSubmucous plexusHumansChildMolecular BiologyAgedPregnancyIntestinal neuronal dysplasiaInfant NewbornGestational ageInfantAnatomical pathologyCell BiologyGeneral MedicineAnatomySubmucous PlexusMiddle Agedmedicine.diseaseGanglionmedicine.anatomical_structureChild PreschoolGestationGangliaVirchows Archiv : an international journal of pathology
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Anti-vimentin staining in muscle pathology

1993

The intermediate filaments of immature muscle fibres contain desmin and vimentin; vimentin is lacking in mature fibres. Regenerating fibres react with anti-vimentin antibodies and more intensely for desmin than mature fibres. The aim of the present study was to evaluate anti-vimentin staining for muscle pathology. Anti-vimentin-reactive fibres were found in 40 of 89 biopsies assessed. Fifteen patients with progressive destructive myopathy, infantile spinal muscular atrophy, clinically suspected Leigh's disease or unclassifiable congenital myopathy had between 1% and 95% vimentin-positive fibres. Less than 1% positive fibres were found in 25 patients with neuropathy with secondary myopathy o…

Adultmedicine.medical_specialtyPathologyHistologyAdolescentBiopsyIntermediate FilamentsMuscle ProteinsVimentinmacromolecular substancesPathology and Forensic MedicineImmunoenzyme TechniquesPhysiology (medical)BiopsyHumansVimentinMedicineChildMyopathyIntermediate filamentAgedStaining and Labelingbiologymedicine.diagnostic_testbusiness.industryMusclesInfant NewbornInfantNeuromuscular DiseasesMiddle Agedmedicine.diseaseCongenital myopathyNeurologyChild Preschoolbiology.proteinImmunohistochemistryHistopathologyDesminNeurology (clinical)medicine.symptombusinessNeuropathology and Applied Neurobiology
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