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Biomedical subjects

J Libert

Publications and source records attributed to J Libert.

At least 73 records · Page 4Linked to original sources
PubMed1977

Skin and conjunctival biopsies in adrenoleukodystrophy.

Conjunctival and skin biopsies were performed in an 11 1/2 year-old caucasian male affected by adrenoleukodystrophy (ALD). In Schwann cells surrounding myelinated axons in conjunctival and dermal nerve bundles, empty clefts and few arrays of lamellae were discovered. The vacuolization in the eccrine glands of the skin, another striking feature, has not been reported previously in ALD. The obtained results suggest that ALD can be diagnosed in skin specimens precluding major surgery for biopsy. They provide support to the hypothesis of Schaumburg et al. (1975) that ALD is a generalized metabolic disorder.

Adrenal Insufficiency↗
PubMed1977

Ocular findings in I-cell disease (mucolipidosis type II).

The ultrastructural study of the eyes in seven patients affected with I-cell disease (mucolipidosis type II) revealed important changes in the corneal, scleral, and uveal fibroblasts, while other cells were rarely involved. This explains the inconstant corneal clouding and the absence of ophthalmoscopic abnormalities clinically. At any moment of a patient's life, conjunctival biopsy specimens show characteristic alterations and allow the rapid and secure diagnosis of I-cell disease. This examination should be widely used in the screening of lysosomal diseases.

Child, Preschool↗
PubMed1977

Ocular ultrastructural study in a fetus with type II glycogenosis.

The general pathological and ocular studies in an aborted fetus with type II glycogenosis revealed the widespread lysosomal storage of glycogen. Obvious lesions are observed in the viscera, in the skeletal and ocular muscles, and in all ocular tissues except the pigment epithelium of the retina. Brain and heart are relatively spared. Conjunctival and skin biopsies have a diagnostic importance, since specific alterations are evident early in the course of the disease.

Conjunctiva↗
PubMed1976

The use of conjunctival biopsy and enzyme analysis in tears for the diagnosis of homozygotes and heterozygotes with Fabry disease.

In most inborn errors of metabolism, the detection of heterozygotes is either impossible, or is feasible only on a statistical basis, so that some uncertainty always remains in that diagnosis. Heterozygote detection is by far more imperative in sex-linked diseases than in autosomal recessive disorders. Indeed, female carriers are at risk of having affected children whatever is the genome of their husband. The method we describe realizes the secure detection of heterozygotes in Fabry disease. It combines the ultrastructural examination of conjunctival biopsies and the assay of thermolabile alpha-galactosidase in tears. The technique is harmless and relatively simple: Both biopsy and tear collection were performed at home in most of the subjects.

Adult↗
PubMed1976

Fucosidosis: ultrastructural study of conjunctiva and skin and enzyme analysis of tears.

Conjunctival and skin biopsies from two new patients with fucosidosis were studied by electron microscopy. In both tissues, the connective tissue cells and the capillary endothelial cells were filled with single membrane limited inclusions of two types: (1) Clear inclusions containing a fibrillogranular reticulum. (2) Dark inclusions with a dense granular material. Specific stainings in ultrastructure suggest that these inclusions contain oligosaccharide chains. The ultrastructural aspect is characteristic for fucosidosis. Enzyme studies on tears realized an easy and secure technique for the diagnosis of the disease.

Biopsy↗
PubMed1975

Ocular findings in Niemann-Pick disease.

Light and electron microscopic studies of the eyes of a 3 1/2-year-old girl who died of Niemann-Pick disease disclosed accumulation of intralysosomal lipid material in all cells other than those that were pigmented. The nonpigmented layer of the ciliary process and the ganglion cells of the retina were especially involved. Electron microscopy revealed two main types of lipid cytosomes. The presumptive explanation for this finding is that the metabolism of the stored material in neurons differs from that in other cells. Topographic and structural studies of the pathologic pigment epithelium suggested that pigmented cells show storage material either when they are in intimate contact with affected cells or when the enzyme defect interferes with the catabolism of the outer segments.

Child, Preschool↗
PubMed1975

Diagnosis of type A Niemann-Pick's disease by conjunctival biopsy.

Electron microscopic examination of the conjunctive of four children affected with Niemann-Pick's disease revealed a widespread storage process. The epithelium, the connective tissue cells, the endothelial cells and the pericytes of the capillaries are filled with lysosomal inclusions with pleomorphic structure. The nerve fibres show destructive process of the myelin sheaths and accumulation of lipid material in the Schwann cells. The extension of the lesions is similar, as shown by morphologic and morphometric analysis in early and terminal stages of the diseases. Conjunctival biopsy allows an early and secure diagnosis of Niemann-Pick's disease, and should be performed when the clinical symptoms suggest a lysosomal disorder.

Biopsy↗