pelizaeus-merzbacher disease/sembap

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Spontaneous corneal hydrops and perforation in pellucid marginal degeneration; a case report.

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OBJECTIVE To report an unusual presentation of pellucid marginal degeneration (PMD). METHODS A 57-year-old man with history of corneal ectasia experienced acute hydrops and spontaneous corneal perforation in his right eye. Examination revealed PMD in both eyes. After initial treatment with

Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation.

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Globoid cell leukodystrophy (GLD) is a disorder of the central and peripheral nervous systems caused by the deficiency of the lysosomal enzyme galactocerebrosidase (GALC). The pathological changes associated with the disease include accumulation of globoid cells and loss of myelin due to production

Peripheral neuropathy in the Twitcher mutant. A new experimental model of endoneurial edema.

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The Twitcher mouse (Twi/Twi) is a recently identified mutant experimental model for human globoid leukodystrophy. Affected mice develop neurologic abnormalities with demyelination of white matter and peripheral nerve due to an inherited enzyme deficiency. The neuropathy has unusual pathologic

Secondary amyloidosis in the hydrops lesion of a patient with pellucid marginal degeneration.

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OBJECTIVE To report a case of secondary corneal amyloidosis in a chronic hydrops lesion of a patient with pellucid marginal degeneration (PMD). METHODS Clinicopathologic case report with a review of the literature. A 63-year-old man with PMD developed acute hydrops in 1999, which never resolved and

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

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Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly understood. We report a new presentation of a patient found to have Canavan disease; brain

MLC1 protein: a likely link between leukodystrophies and brain channelopathies.

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Megalencephalic leukoencephalopathy with subcortical cysts (MLCs) disease is a rare inherited, autosomal recessive form of childhood-onset spongiform leukodystrophy characterized by macrocephaly, deterioration of motor functions, epileptic seizures and mental decline. Brain edema, subcortical fluid

Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a type of leukodystrophy characterized by white matter edema, and it is caused mainly by recessive mutations in MLC1 and GLIALCAM genes. These variants are called MLC1 and MLC2A with both types of patients sharing the same clinical

Pretreatment with andrographolide pills(®) attenuates lipopolysaccharide-induced pulmonary microcirculatory disturbance and acute lung injury in rats.

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OBJECTIVE The purpose of this study was to explore the protective effect of AP on LPS-induced PMD and ALI. METHODS Male SD rats were continuously infused with LPS (5 mg/kg/h) for one hour to induce PMD and ALI. AP was administrated orally one hour before LPS exposure. Arterial blood pressure and HR

[Renal impairment in patients with methylmalonic aciduria: a review of five cases].

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OBJECTIVE The renal impairment in children with methylmalonic aciduria has seldom been reported. To improve knowledge in this aspect, clinical data of five cases with methylmalonic aciduria with renal involvement were analyzed and the results are reported in this paper, which may be of some help in

The effects of lithium chloride and other substances on levels of brain N-acetyl-L-aspartic acid in Canavan disease-like rats.

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Canavan disease (CD) is a human early-onset leukodystrophy, genetic in nature and resulting from an autosomally inherited recessive trait. CD is characterized by loss of the axon's myelin sheath, while leaving the axons intact, and spongiform degeneration, especially in white matter. It is an

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.

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Mutations in the MLC1 gene, which encodes a protein expressed in brain astrocytes, are the leading cause of MLC, a rare leukodystrophy characterized by macrocephaly, brain edema, subcortical cysts, myelin and astrocyte vacuolation. Although recent studies indicate that MLC1 protein is implicated in

Functional analyses of mutations in HEPACAM causing megalencephalic leukoencephalopathy.

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by white matter edema. Autosomal-recessive mutations in MLC1 cause MLC type 1, and autosomal-recessive or dominant mutations in HEPACAM (also called GLIALCAM) cause MLC type 2A and type

SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old.

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Mutations in the nuclear SURF-1 gene lead directly to cytochrome-c oxidase deficiency, the most common respiratory chain defect in Leigh syndrome, a neurodegenerative mitochondrial disease involving the deep gray matter and brain stem. We describe the second documented case in the literature to have

[On the question of cutaneous changes associated with paraproteinemia. Light- and electron-microscopic study (author's transl)].

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This report deals with a case of paraproteinemia (IgG Kappa) associated with skin indurations and yellowish papules on the trunk, edema of the face, and crystals in the cornea. In addition to the absence of elastic fibers and reductions of collagen fibers, light microscopy revealed single and/or

Dysfunctional astrocytes as key players in the pathogenesis of central nervous system disorders.

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Once considered little more than the glue that holds neurons in place, astrocytes are now becoming appreciated for the key roles they play in central nervous system functions. They supply neurons and oligodendrocytes with substrates for energy metabolism, control extracellular water and electrolyte

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