Stratum corneum lipids, which are enriched in sphingolipids, free fatty acids, and cholesterol, are required for epidermal barrier function. When the epidermal permeability barrier is perturbed, the transepidermal water loss returns to normal by 24-48 hours in parallel with the reappearance of stratum corneum lipids, derived from secreted lamellar bodis and accelerated lipid synthesis. Recent evidence shows that topical application of individual lipids interferes with barrier recovery while complete mixtures of cholesterol, fatty acids, and ceramides facilitate recovery after barrier disrupton. Metabolic imbalances and perturbed barrier function can be either the cause or the consequences of the pathobiology of scaling disease. Many skin diseases relating cornification and dryness are indeed related to abnormality of one or several combinations of lipids. Recently the cytokines which have changed during barrier recovery seem to be important in understanding of epidermal lipid homeostasis as well as barrier recovery.
Ceramides ; Cholesterol ; Cytokines ; Fatty Acids ; Fatty Acids, Nonesterified ; Homeostasis* ; Permeability ; Skin Diseases ; Sphingolipids ; Water

No abstract available.
Rabbits*

No abstract available.
Child* ; Humans ; Lupus Erythematosus, Systemic*

No abstract available.
Cataract* ; Nephrotic Syndrome*

No abstract available.
Child* ; Humans ; Nephrotic Syndrome* ; Peritonitis*

Congenital lipoid adrenal hyperplasia, the most severe form of congenital adrenal hyperplasia, is caused by mutations in the steroidogenic acute regulatory protien (StAR). It is characterized by failure of synthesis of all three classes of adrenal steroids and massive accumulation of lipids and cholesterol in the adrenal cortex. The computed tomography (CT) unequivocally delineated massively enlarged adrenal glands of fat-tissue attenuation, enabling early diagnosis and replacement therapy. We report a case of congenital lipoid adrenal hyperplasia, in which CT established that lipoid deposition at the adrenal cortex disappeared after the adrenal hormone replacement therapy.
Adrenal Cortex ; Adrenal Glands ; Adrenal Hyperplasia, Congenital ; Cholesterol ; Early Diagnosis* ; Hormone Replacement Therapy ; Hyperplasia* ; Steroids

No abstract available.
Erythrocytes* ; Hematuria*

No abstract available.
Child* ; Humans ; Nephrosis, Lipoid*

Mutation of p53 gene is one of t.he commonest genetic changes in the development of human cancer including ovary. We intvestigated the diagnostic usefulness of the demonstration of p53 gene immunoreactivity in ovarian cancers, because immunochemical demonstration of p53 immunoreactivity is inexpensive, easily controlled and can be applied in routine pathology laboratories. p53 immunoreactivity was not identified in any patients in whom there was no morphological evidence of neoplasia. ln contrast, in contrast, in 46% of patients of ovarian cancer, p53 immunoreactivity was identified. Overexpression of gene correlated with advanced stage but did not corre1ate with grade, cell type and tumor size.
Female ; Genes, p53* ; Humans ; Immunohistochemistry ; Ovarian Neoplasms* ; Ovary ; Pathology

Cyclopia is rare congenital craniofacial anomaly, in which the eyes are fused together and located in a single orbit. It is consistently associated with severe holoprosencephaly, which is the failure of cleavage of the prosencephalon with a deficit in the midline facial development. chromosomal study revealed 47, X( ), +13 (Patau syndrome).
Holoprosencephaly ; Orbit ; Prosencephalon ; Trisomy*