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Pyramidal neurons with ectopic dendrites in storage diseases exhibit increased GM2 ganglioside immunoreactivity.

Cortical pyramidal neurons in several types of neuronal storage diseases have been shown by Golgi staining to sprout axon hillock-associated … itions lacking ectopic dendrite growth included adult-onset swainsonine-induced alpha-mannosidosis, fucosidosis, neuronal ceroid lipofuscinosis (Batten disease) and normal, mature brain. Immunocytochemical staining for GM2 ganglioside indicated that diseases exhibiting new dendritic sprouting with the exception of GM1 gangliosidosis, exhibited abundant GM2-li …

Isolated macrocerebellum: description of six cases and literature review.

BACKGROUND: Macrocerebellum is a rare entity described as an isolated and abnormal increase of the cerebellum (CB) size without morphologica … ch as Lhermitte-Duclos, Sotos syndrome, Costello syndrome, Williams syndrome, Alexander disease and fucosidosis. Furthermore a detailed literature review is provided. Macrocerebellum is always associated with an abnormal mental and motor development. CONCLUSION: Macrocerebellum is a neuroradiological entity that can be identified qualitatively and confirmed …

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases.

This is a review of the clinical responses and prospectus of new therapies following use of allogeneic hematopoietic stem cell transplantation for the treatment of the following disorders: Hurlers syndrome (MPS 1-H), globoid cell leukodystrophy (GLD; Krabbes disease), adrenoleukodystrophy, metachromatic leukodystrophy, Wolmans disease, I-cell disease (mucolipidosis II; MLS-II), alpha-mannosidosis, fucosidosis, Niemann-Pick B/A disease, Slys disease (MPS VII), Gauchers disease (Gaucher-II-III), Battens disease, Farbers disease, Sanfilippo syndrome (MPS-III), Hunters disease (MPS-II), Maroteaux-…

Parent-child interactions among children with juvenile fibromyalgia, arthritis, and healthy controls.

Parent-child interactions during pain-inducing exercise tasks among children (11-17 years old) with fibromyalgia, juvenile rheumatoid arthritis, and pain-free controls were examined and the contribution of parent-child interactions to disability was tested. Fifteen children in each of the three diagnostic groups and their parents completed 5-min exercise tasks and completed questionnaire measures of disability (Functional Disability Inventory) and coping (Pain Coping Questionnaire). There were few group differences in parent-child interactions. After controlling for children's ratings of pain

Lysosomal storage in human skeletal muscle.

Skeletal muscle is involved symptomatically in two lysosomal storage diseases, acid maltase deficiency and a similar condition in which enzyme levels are normal. Asymptomatic storage in skeletal muscle cells is found in Batten-Kufs' disease (ceroid lipofuscinosis), Fabry's disease, and mannosidosis, as well as in rare patients with an unidentified storage disease. Other cell types (vascular endothelium, smooth muscle, fibroblasts, satellite cells) within the confines of the biopsy specimen may reveal storage in other diseases. The differential diagnosis involves predominantly both normal and a

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

RATIONALE: The first step in the diagnosis of oligosaccharidoses is to evidence abnormal oligosaccharides excreted in urine, usually perform … , it allows not only the identification of all the oligosaccharidoses previously identified by TLC (fucosidosis, alphamannosidosis, aspartylglucosaminuria, GM1 gangliosidosis, sialidosis, galactosialidosis and Schindler disease), but also extends the field of diagnosis to mucolipidosis type II, Sandhoff disease, and β-mannosidosis. The same technique was appl …

Lysosomal storage diseases.

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage ca

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… The resulting diseases, named for the sugar that is not hydrolyzed, include fucosidosis, α- and β-mannosidosis, sialidosis, and aspartylglucosaminuria. The former disorders are screened by urine oligosaccharide analysis, performed by thin-layer chromatography,or more recently by mass spectrometry. … GM1 ganglioside is stored in generalized β-galactosidase deficiency, while the H antigen accumulates in fucosidosis. …

Manifestations of systemic disease in the retina and fundus of cats and dogs.

The fundus is unique in that it is the only part of the body that allows for a noninvasive and uninterrupted view of vasculature and nervous tissue. Utilization of this can be a powerful tool in uncovering salient incidental findings which point to underlying systemic diseases, and for monitoring response to therapy. Retinal venules and arterioles allow the clinician to assess changes in vascular color, diameter, outline, and tortuosity. The retina and optic nerve may exhibit changes associated with increased or decreased thickness, inflammatory infiltrates, hemorrhages, and detachments. While

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… Conditions affecting the retina or fundus in dogs include neuronal ceroid lipofuscinosis ( 14 , 24 ), α -L-fucosidosis ( 25 , 26 ), MPS I ( 27 ), MPS IIIA ( 28 ), MPS IIIB ( 29 ), MPS VI ( 30 ), MPS VII ( 31 ), GM1-gangliosidosis ( 32 ), and GM2-gangliosidosis ( 33 ). … Fucosidosis in an English springer spaniel presenting as a malabsorption syndrome . Aust Vet J. ( 1985 ) 62 : 415 – 20 . 10.1111/j.1751-0813.1985.tb14124.x 3833197 26. Keller CB Lamarre J . Inherited lysosomal storage disease in an English springer-spaniel . …

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.

Different approaches have been utilized or proposed for the treatment of lysosomal storage disorders (LSDs) including enzyme replacement and hematopoietic stem cell transplant therapies, both aiming to compensate for the enzymatic loss of the underlying mutated lysosomal enzymes. However, these approaches have their own limitations and therefore the vast majority of LSDs are either still untreatable or their treatments are inadequate. Missense mutations affecting enzyme stability, folding and cellular trafficking are common in LSDs resulting often in low protein half-life, premature degradatio

Совпадение в полном тексте источника
… Sialic acid in urine is a common presentation of sialic acid storage disease while, oligosaccharides can be found in patients’ with GM1/2 gangliosidosis, fucosidosis, galactosialidosis, mannosidosis, and sialidosis. …

The 44th Annual Meeting of the European Society for Blood and Marrow Transplantation: Physicians Poster Sessions

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