Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two siblings. It is suggested that sensory deficits are due to a central-peripheral dying back axono...

symmetric changes, and lack of symptoms, we suspected a metabolic storage disorder. Laboratory test results showed normal levels of -galactosidase, arylsulfatase A, hexosaminidase A and B, and -galactocerebrosidase.However, sialic acid levelswere elevated in the urine. Examination results of a skin biopsy specimen revealed a fibroblast -neuraminidase level of 0.5 nmoles/h per milligram of prote...

Two new farnesane-type sesquiterpenes, hedychiols A and B 8,9-diacetate, were isolated from the methanolic extract of the fresh rhizome of Hedychium coronarium KOEN. cultivated in Japan. Their stereostructures were elucidated on the basis of chemical and physicochemical evidence. The inhibitory effects of isolated constituents on the release of beta-hexosaminidase from RBL-2H3 cells were examin...

We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive...

rendered background IgE levels only. In accordance, sera of OVA mice which permitted mast cell degranulation upon OVA trigger in a specific b-hexosaminidase release assay, whereas sera of OVA-AAVLP mice did not contain anaphylactogenic antibodies. In an in vivo anaphylaxis experiment, upon intravenous OVA challenge OVA-immunized mice presented significant drop of body temperature, whereas AAVLP...

This study investigated the effect of Chondria crassicaulis ethanol extract on degranulation rat basophilic leukemia-2H3 cells and 2,4-dinitrochlorobenzene-induced atopic dermatitis-like skin lesions in Bagg Albino/c mice. General properties (proximate analysis, total phenol flavonoid) were measured; moreover, beta-hexosaminidase release cytotoxicity cells, severity dermatitis, production cytok...