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Biomedical subjects

J Uitto

Publications and source records attributed to J Uitto.

567 records · Page 32Linked to original sources
PubMedDate not supplied

Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management.

The epidermolysis bullosa-pyloric atresia-obstructive uropathy (EB-PA-OU) association is a rare, but well-described multisystem disease. While the prognosis at this time is still poor, an increasing number of patients are surviving to adolescence with aggressive care. It is important to understand this syndrome in order to anticipate medical complications and offer preventive strategies where possible. Prompt and expectant management of obstructive uropathy is crucial in these patients. Evidence of ureterovesicular obstruction may require bowel diversion, as excision of the obstructed ureterovesicular junction with reimplantation is often associated with a high risk of reobstruction. Many newborns succumb to sepsis or dehydration and electrolyte imbalance. Those infants who survive need close monitoring for the development of obstructive uropathy, failure to thrive, protein-losing enteropathy, respiratory compromise, and increased susceptibility to invasive infections. Once a clinical diagnosis is made, mutational analysis can confirm it and facilitate genetic counseling, as recurrence risks are 25% for this autosomal recessive condition. Mutational analysis enables direct genetic testing and accurate prenatal diagnosis. As more patients are studied, genotype/phenotype correlations may be possible.

Amino Acid Substitution↗
PubMedDate not supplied

Steroid-induced dermal atrophy: effects of glucocorticosteroids on collagen metabolism in human skin fibroblast cultures.

Collagen production by human skin fibroblast cultures was studied by incubation with [3H] proline and several glucocorticosteroids known to produce dermal atrophy in vivo. Collagen production was measured as formation of [3H]hydroxyproline or collagenase-digestible 3H-polypeptides, and the values were corrected for changes in cell number in the same cultures. The steroids, in a wide concentration range, failed to elicit any consistent alterations in collagen production. Review of the literature dealing with corticosteroid-induced changes in collagen production by human skin fibroblasts indicate conflicting results even under apparently similar incubation conditions. Consequently, no unifying hypothesis for steroid-induced dermal atrophy can be developed presently based on the in vitro data.

Cell Count↗
PubMedDate not supplied

Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes.

Epidermolysis bullosa (EB), a heterogeneous group of genodermatoses, is characterized by fragility and blistering of the skin, associated with characteristic extracutaneous manifestations. Based on clinical severity, constellation of the phenotypic manifestations, and the level of tissue separation within the cutaneous basement membrane zone, EB has been divided into distinct subcategories. Traditionally, these include the simplex, junctional and dystrophic variants of EB. Recent attention has been drawn to variants of EB demonstrating tissue separation at the level of hemidesmosomes, ultrastructurally recognizable adhesion complexes within the cutaneous basement membrane zone. Clinically, these hemidesmosomal variants manifest either as generalized atrophic benign epidermolysis bullosa (GABEB), EB with pyloric atresia, or EB with late-onset muscular dystrophy. Elucidation of basement membrane zone components by molecular cloning and development of mutation detection strategies have revealed that the hemidesmosomal variants of EB result from mutations in the genes encoding the subunit polypeptides of the 180-kD bullous pemphigoid antigen/type XVII collagen, the alpha6beta4 integrin, or plectin, respectively. Collectively, these data add to the understanding of the molecular complexity of the cutaneous basement membrane zone in EB, as attested by the fact that mutations in 10 different genes can underlie different variants of EB. Elucidation of mutations in different forms of EB has direct application to genetic counseling and DNA-based prenatal testing in families with EB.

Animals↗
PubMedDate not supplied

Scleroderma-like changes in insulin-dependent diabetes mellitus: clinical and biochemical studies.

Children with insulin-dependent diabetes mellitus (IDDM) were examined for scleroderma-like changes of digital sclerosis and joint contractures. Of the 104 patients, 19 (18%) demonstrated these features; five patients had both multiple joint involvement and skin changes; three were studied in detail. All three had restrictive pulmonary disease. Histopathology of skin in these three patients demonstrated increased accumulation of collagen in the lower dermis. In two of the patients, the extractability of collagen in 0.5 N acetic acid was decreased by about 50% as compared with normal controls, which suggests increased cross-linkage of collagen. In addition, the mean nonenzymatic glycosylation of collagen in these three patients was 13 times that of controls. The results indicate that distinct histopathologic and biochemical changes can be detected in the skin of these patients. The results further support the hypothesis that nonenzymatic glycosylation may alter the turnover of collagen, thus contributing to the development of a scleroderma-like syndrome with skin, joint, and pulmonary findings in patients with IDDM.

Adolescent↗
PubMedDate not supplied

Laser welding of large diameter arteries and veins.

Based on our preliminary studies and the results of this study, we conclude that argon laser welding of 4-8 mm internal diameter veins, arteries, and arteriovenous fistulas may have several potential advantages compared to conventional suture techniques. The benefits of laser repairs may include improved mechanical properties, and absence of the foreign body response related to sutures. Laser welding is sterile, nontactile and possibly time conserving, and the wounds heal rapidly without aneurysms or excess tissue proliferation.

Animals↗