Search results for "Lysosomal Storage Diseases"

showing 5 items of 15 documents

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a rev…

2012

Abstract Background Lysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%. Patients and methods We report four cases with transient hydrops fetalis resulting from LSD and performed a literature review on LSD with NIHF and congenital ascites in combination. Results At present, 12 different LSDs are described to be associated with NIHF or congenital ascites. Most patients had a family history of NIHF, where the preceding sibling had not been examined. A diagnostic approach to the fetus with NIHF due to suspected LSD either in utero …

MalePathologymedicine.medical_specialtyHydrops FetalisNon-immunological hydrops fetalisPharmacology toxicologylcsh:MedicineLysosomal storage diseaseLysosomal storage disordersClinical approachPregnancyHydrops fetalisAscitesLysosomal storage diseaseHumansMedicineGenetics(clinical)Pharmacology (medical)Genetics (clinical)Medicine(all)business.industryResearchIncidence (epidemiology)lcsh:RTransient hydropsGeneral Medicinemedicine.diseaseCongenital ascitesLysosomal Storage DiseasesImmunologyFemalemedicine.symptombusinessOrphanet Journal of Rare Diseases
researchProduct

The monocyte-macrophage system is affected in lysosomal storage diseases: an immunoelectron microscopic study

1997

Studying peripheral blood mononuclear cells (PBMCs) has become an important diagnostic tool in lysosomal storage diseases. Previous studies revealed that B and subclasses of T lymphocytes participate in the storage process, whereas the role of circulating monocytes was not clear. In this study, the involvement of CD14+ monocytes in lysosomal diseases was investigated. Blood samples from six patients with different lysosomal storage disorders were studied, including one with late--infantile and three with juvenile neuronal ceroid--lipofuscinoses, and two with mucopolysaccharidosis type VI. CD14+ cells were separated immunomagnetically from PBMCs and studied by light and electron microscopy. …

Mucopolysaccharidosis VIMacrophagesMucopolysaccharidosisCD14MonocyteMucopolysaccharidosis type VILipopolysaccharide ReceptorsBiologymedicine.diseasePeripheral blood mononuclear cellMonocytesPathology and Forensic MedicineLysosomal Storage DiseasesCellular and Molecular Neurosciencemedicine.anatomical_structureNeuronal Ceroid-LipofuscinosesImmunologyLysosomal storage diseasemedicineHumansMacrophageNeuronal ceroid lipofuscinosisNeurology (clinical)Microscopy ImmunoelectronActa Neuropathologica
researchProduct

Commentary: Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early Onset Parkinsonism

2021

NA

Pediatricsmedicine.medical_specialtyLevodopaAnderson-Fabry DiseaseNeurologybusiness.industrymedicineAnderson-Fabry disease early onset parkinsonism levodopa response lysosomal storage diseasesNeurology (clinical)Early onset parkinsonismbusinessCase Reports and Commentariesmedicine.drugMovement Disorders Clinical Practice
researchProduct

Fabry Disease With Concomitant Lewy Body Disease

2019

AbstractAlthough Gaucher disease can be accompanied by Lewy pathology (LP) and extrapyramidal symptoms, it is unknown if LP exists in Fabry disease (FD), another progressive multisystem lysosomal storage disorder. We aimed to elucidate the distribution patterns of FD-related inclusions and LP in the brain of a 58-year-old cognitively unimpaired male FD patient suffering from predominant hypokinesia. Immunohistochemistry (CD77, α-synuclein, collagen IV) and neuropathological staging were performed on 100-µm sections. Tissue from the enteric or peripheral nervous system was unavailable. As controls, a second cognitively unimpaired 50-year-old male FD patient without LP or motor symptoms and 3…

complications [Lewy Body Disease]MalePathologyAutopsyDisease0302 clinical medicineHypokinesiapathology [Brain]Lysosomal storage diseasespathology [Neurons]metabolism [alpha-Synuclein]metabolism [Fabry Disease]pathology [Astrocytes]Neuronsα-Synuclein0303 health sciencesParkinsonismTrihexosylceramidesBrainGeneral MedicineMiddle AgedParkinson diseasecomplications [Fabry Disease]Neurologymetabolism [Neurons]alpha-Synucleinmedicine.symptomLewy Body Diseasemedicine.medical_specialtymetabolism [Lewy Body Disease]Context (language use)Substantia nigrametabolism [Trihexosylceramides]Pathology and Forensic Medicineblood supply [Brain]03 medical and health sciencesCellular and Molecular Neuroscienceα-Galactosidase AmedicineHumansddc:610030304 developmental biologypathology [Lewy Bodies]Fabry diseasebusiness.industryPars compactapathology [Lewy Body Disease]Lewy bodies/neuritesOriginal Articlesmetabolism [Lewy Bodies]medicine.diseaseFabry diseasemetabolism [Brain]AstrocytesLewy BodiesNeurology (clinical)CD77pathology [Fabry Disease]business030217 neurology & neurosurgeryJournal of Neuropathology and Experimental Neurology
researchProduct

Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early‐Onset Parkinsonism

2021

NA

medicine.medical_specialtyLevodopabusiness.industryEarly onset parkinsonismGastroenterologyAnderson-Fabry DiseaseNeurologyInternal medicinemedicineAnderson-Fabry disease early onset parkinsonism levodopa response lysosomal storage diseasesSettore MED/26 - NeurologiaNeurology (clinical)businessCase Reports and Commentariesmedicine.drugMovement Disorders Clinical Practice
researchProduct