Search results for "drops"

showing 10 items of 37 documents

Neuraminidase deficiency presenting as non-immune hydrops fetalis

1984

A newborn infant with oedema, ascites and hepatosplenomegaly is described. In ascites fluid foamy macrophages were found, in a liver biopsy cytoplasmic inclusions and membrane-bound vacuoles were seen. Furthermore the child excreted excessive amounts of sialic acid-rich oligosaccharides in the urine, and therefore a neurovisceral degenerative disorder was assumed. The diagnosis of sialidosis was confirmed by enzymatic assay in cultured fibroblasts, in which a complete deficiency of the lysosomal enzyme neuraminidase could be demonstrated. After recurrent septicaemias the child became dystrophic and died at the age of 6 months. Our case is compared with sialidosis observed by other authors, …

Cytoplasmic inclusionHepatosplenomegalyNeuraminidaseOligosaccharidesMucolipidosesalpha-MannosidaseHydrops fetalisMannosidasesAscitesLeukocytesmedicineLysosomal storage diseaseEdemaHumansSialidosisalpha-L-Fucosidasemedicine.diagnostic_testbiologybusiness.industryInfant NewbornFibroblastsbeta-Galactosidasemedicine.diseasebeta-N-AcetylhexosaminidasesHexosaminidasesLiverLiver biopsyPediatrics Perinatology and Child HealthImmunologybiology.proteinFemalemedicine.symptomLysosomesbusinessNeuraminidaseEuropean Journal of Pediatrics
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Dust emissions over the Sahel associated with the West African monsoon intertropical discontinuity region: A representative case-study

2008

Near-dawn airborne lidar and dropsonde observations acquired on 7 July 2006, during the African Monsoon Multidisciplinary Analysis (AMMA) Special Observing Period 2a1, were used to investigate dust mobilization, lifting and transport in the intertropical discontinuity (ITD) region over western Niger. Atmospheric reflectivity data from the LEANDRE 2 lidar system enabled us to analyse the structure of dust plumes in the context of wind and thermodynamic information provided by the WIND lidar system and dropsondes. Dust mobilization was mainly observed in two locations: (a) within the monsoon flow as the result of the passage of a density current originating from a mesoscale convective system …

Earth's energy budgetAtmospheric ScienceMesoscale convective systemLidar010504 meteorology & atmospheric sciencesHarmattanWind LidarDust[SDU.STU.ME]Sciences of the Universe [physics]/Earth Sciences/Meteorology010502 geochemistry & geophysicsMonsoon01 natural sciencesHaboobLidar13. Climate actionClimatologyPanacheEnvironmental scienceAMMADropsonde0105 earth and related environmental sciences
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Fetal presentation of Morquio disease type A.

1992

A fetus with mucopolysaccharidosis type IV A (Morquio type A) is described. The family had one affected child exhibiting symptoms of classical Morquio A disease, and late in the subsequent pregnancy prenatal diagnosis was requested. At 23 weeks' gestation, moderate ascites was detected by detailed ultrasound scan and keratan sulphate was found in the amniotic fluid. The pregnancy was terminated by prostaglandin induction and the diagnosis of mucopolysaccharidosis type IV A was confirmed by demonstration of a deficiency of N-acetylgalactosamine-6-sulphate (GalNac-6-S) sulphatase in cultured amniotic cells and in post-mortem fibroblast cultures. The activities of beta-galactosidase and arylsu…

ElectrophoresisMalemedicine.medical_specialtyAmniotic fluidPlacentaMucopolysaccharidosis type IVNeuraminidasePrenatal diagnosisConsanguinityPregnancyHydrops fetalisInternal medicineLysosomal storage diseaseMedicineHumansChildGenetics (clinical)GlycosaminoglycansUltrasonographyFetusPregnancybusiness.industryObstetrics and GynecologyAscitesMucopolysaccharidosis IVmedicine.diseaseAmniotic Fluidbeta-GalactosidaseEndocrinologyKeratan SulfatePregnancy Trimester SecondMucopolysaccharidosis IVAmniocentesisFemaleSulfatasesbusinessPrenatal diagnosis
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Sonographic Prognostic Factors in Prenatal Diagnosis of SCT

2003

<i>Objective:</i> A subset of fetuses with sacrococcygeal teratomas (SCT) develops hydrops caused by high-output heart failure. Identification of fetuses at risk for hydrops is important because surgical intervention may reverse the pathophysiology of the disease. The aim of this study was to evaluate sonographic prognostic factors regarding tumor morphology and vascularity associated with the development of hydrops in utero. <i>Methods:</i> Over a 10-year period, we identified 7 fetuses with SCT diagnosed antenatally and managed at the University of Mainz. We retrospectively reviewed the charts of mothers and infants and recorded data on prenatal diagnosis, tumor si…

Embryologymedicine.medical_specialtyPrenatal diagnosisUltrasonography PrenatalDiagnosis DifferentialPregnancyHydrops fetalisHumansMedicineRadiology Nuclear Medicine and imagingRetrospective StudiesFetusPregnancySacrococcygeal Regionbusiness.industryVaginal deliveryObstetricsInfant NewbornTeratomaObstetrics and GynecologyGestational ageGeneral MedicinePrognosismedicine.diseaseembryonic structuresPediatrics Perinatology and Child HealthFemaleTeratomabusinessSacrococcygeal teratomaFetal Diagnosis and Therapy
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Meniere's disease: Therapeutic options

2021

Meniere's disease (MD) is characterized by the triad of fluctuating hearing loss, episodic vertigo and tinnitus, and by endolymphatic hydrops found on postmortem examinations. Since the description of endolymphatic hydrops by Hallpike and Cairns, the physiopathology of Meniere's symptoms has been based on assumption that the pathologic lesion was the cause of the symptoms. Schuknecht proposed the theory of membranous rupture causing the mixing up of endolymph and perilymph leading to the occurrence of Meniere's symptoms. Lawrence confirmed this theory with research on experimental animals. In 1995 the AAO-HNS criteria defines "Possible MD (Grade D), Probable MD (Grade C), Definite MD (Grade…

Endolymphatic hydropsMeniere diseaseInner earHearing lossDeafness
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Non-immune hydrops fetalis: Two case reports

2021

BACKGROUND Fetal hydrops is a serious condition difficult to manage, often with a poor prognosis, and it is characterized by the collection of fluid in the extravascular compartments. Before 1968, the most frequent cause was the maternal-fetal Rh incompatibility. Today, 90% of the cases are non-immune hydrops fetalis. Multiple fetal anatomic and functional disorders can cause non-immune hydrops fetalis and the pathogenesis is incompletely understood. Etiology varies from viral infections to heart disease, chromosomal abnormalities, hematological and autoimmune causes. CASE SUMMARY A 38-year-old pregnant woman has neck lymphoadenomegaly, fever, cough, tonsillar plaques at 14 wk of amenorrhea…

Fetusmedicine.medical_specialtyAmniotic fluidHeart diseaseObstetricsbusiness.industryAnemiaFetal transfusionFetal anemiaGeneral Medicinemedicine.diseaseHydrops fetalisPreterm cesarean sectionBlood chemistryInfectious disease (medical specialty)Hydrops fetalisCase reportmedicineEtiologybusinessCordocentesisWorld Journal of Clinical Cases
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Caddis larvae (Trichoptera, Hydropsychidae) indicate delaying recovery of a watercourse polluted by pulp and paper industry

2012

Abstract We studied ecotoxicological responses of aquatic insects to evaluate the recovery of a watercourse with a history of over 100 years as a recipient of pulp and paper mill effluents. The recovery of the water quality began in 1985 due to the improved technology, but ecotoxicological effects on biota have still been evident two decades later, as indicated by morphological abnormalities in tracheal gills of caddis larvae. We hypothesized that these abnormalities are related to organic contaminants, such as resin acids, alkylated PAHs and chlorinated organic compounds, released historically from the mills, and more recently via resuspension from the sediment. Samples were collected betw…

GillEcologybusiness.industryPulp (paper)ta1172General Decision SciencesPaper millBiotaengineering.materialBiologybiology.organism_classificationPulp and paper industryBenthic zoneengineeringWater qualityEcotoxicitybusinessEcology Evolution Behavior and SystematicsHydropsychidaeEcological Indicators
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Instabilités hydrodynamiques de fluides magnétiques en écoulements microfluidiques

2015

Advisors: Prof. Andrejs Cēbers (University of Latvia) & Prof. Régine Perzynski (University of Pierre and Marie Curie)

InstabilitiesMicrofluidicsMagnetic fluids:NATURAL SCIENCES [Research Subject Categories]Micro-convectionMagnetic drops
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Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

2014

Fetal hydrops, fetal pleural effusions, hydrothorax, and chylothorax, may be associated with various genetic disorders, in particular with the Noonan, cardio-facio-cutaneous and Costello syndromes. These syndromes, collectively called RASopathies, are caused by mutations in the RAS/MAPK pathway, which is known to play a major role in lymphangiogenesis. Recently, germline mutations in the Casitas B-cell lymphoma (CBL) gene were reported in 25 patients and of these, 20 had juvenile myelomonocytic leukemia (JMML). The disorder was named "CBL syndrome" or "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" (NSLL). To date, prenatal abnormalities have not been report…

MaleHeterozygoteHydrops FetalisDNA Mutational AnalysisRASopathyChylothoraxGermline mutationhemic and lymphatic diseasesHydrops fetalisGeneticsmedicineHumansProto-Oncogene Proteins c-cblGenetics (clinical)FetusJuvenile myelomonocytic leukemiabusiness.industryChylothoraxFaciesInfantmedicine.diseaseLymphomaPleural EffusionPhenotypeChild PreschoolImmunologyMutationHydrothoraxFemaleRNA Splice SitesbusinessAmerican journal of medical genetics. Part A
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Are antiphospholipid antibodies an essential requirement for an effective immune response to infections?

2007

Antiphospholipid antibodies show a close association to a variety of infections. Recent data implicate that parvovirus B19 may be used as a model-system for studying the interaction of viral infection and the development of these autoantibodies. B19-related diseases commonly associated with the acute infection show flu-like symptoms, transient arthralgias, leukopenia and thrombocytopenia, and, in pregnant women, spontaneous abortion and hydrops fetalis. Hepatitis, myocarditis, meningitis, encephalitis, as well as pure red cell anemia may occur occasionally. In addition, parvovirus B19 infections have been frequently described as the cause or trigger of various forms of autoimmune diseases a…

MaleMyocarditisvirusesBiologymedicine.disease_causeInfectionsGeneral Biochemistry Genetics and Molecular BiologyParvoviridae InfectionsMiceHistory and Philosophy of SciencePregnancyhemic and lymphatic diseasesHydrops fetalismedicineParvovirus B19 HumanAnimalsHumansPregnancy Complications InfectiousAnti-neutrophil cytoplasmic antibodyHepatitisParvovirusGeneral NeuroscienceMolecular MimicryAutoantibodyvirus diseasesmedicine.diseasebiology.organism_classificationVirologyMolecular mimicryImmunologybiology.proteinAntibodies AntiphospholipidFemaleAntibodyAnnals of the New York Academy of Sciences
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