Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

This guideline were initiated by DEBRA International; financial support was provided by DEBRA Austria. The generous assistance of Rebecca Bodan, Lisa Brains, Sharon Cassidy and Kelsey Townsend-Miller is gratefully acknowledged in providing patient or lay input into this guideline. The authors acknowledge the guidance of Kattya Mayre-Chilton (DEDRA International). Johann Bauer (Paracelsus University and EB House, Salzburg, Austria), Christine Bodemer (Hôpital Universitaire Necker, Paris, France), Judith Fischer (Institute of Human Genetics, University of Freiburg, Germany), Jemima Mellerio (St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K.), Francis Palisson (Universidad del Desarrollo and DEBRA, Chile), Eli Sprecher (Department of Dermatology, Tel Aviv Sourasky Medical Center, Israel) and Jouni Uitto, Leila Youssefian and Hassan Vahidnezhad (all from the Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.) are acknowledged as reviewers

Waste water management plant effluents cause cellular alterations in the skin of brown trout

To assess the impact of a sewage plant on fish, brown trout Salmo trutta were kept in two cages for 55 days in a moderately polluted river upstream of a sewage plant . In one of the cages, undiluted treated waste water of the sewage plant (WWE) was added at an average concentration of 5%, whereas the other cage received river water (R) only, A high mortality occurred in the WWE group. In comparison to control trout held in tap water , the skin structure and ultrastructure were altered clearly in both groups exposed to river water , including necrosis, apoptosis, decreased number of mucous cells, decrease in epidermal thickness, invasion of leucocytes, extension of melanocytes into the epidermis, being gradually more prominent in the WWE group. The most obvious difference between the two exposed groups was found in structure, size and electron density of the secretory vesicles of the filament cells. This and the observed vacuolation of Golgi saccules are indicative for disturbances in the secretory pathway of the filament cells. Certain toxins were suspected to cause the decompaction of myelin sheaths demonstrated in both groups. Reasons for the rather minor overall differences between the exposed groups are discussed, The extremely high mortality rate in the WWE group supports the importance of reducing the load of pollutants in the effluent of the waste - water management plant . (C) 1997 The Fisheries Society of the British Isles

Low rate of new-onset primary biliary cholangitis in a cohort of anti-mitochondrial antibody-positive subjects over six years of follow-up

BACKGROUND AND AIMS: Anti-mitochondrial antibodies (AMA) are closely linked to primary biliary cholangitis (PBC). The prevalence of AMA in the general population is low, and AMA positivity may precede PBC. We aimed to determine the natural history of subjects with positive AMA. METHODS: In total, 302 patients were tested AMA-positive over a ten-year period. Of these, immunoblotting confirmed specific AMA in 184 (29 male, 155 female, age 59.6 ± 14.1 years). These subjects were invited to our liver outpatient clinic for clinical and biochemical re-evaluation. Detailed clinical history data were additionally collected from the hospital computer system and by telephone. The subsequent course with regard to mortality, liver-related morbidity, extrahepatic co-morbidities and effectiveness of PBC treatment was determined in 150 subjects (81.5%). RESULTS: After 5.8 ± 5.6 years of follow-up (FU), of 184 AMA-positive subjects, 28 subjects (15.2%; liver-related mortality n = 5) were deceased, and 122 subjects (66.3%) completed FU while 34 subjects (18.5%) were not available for FU. The 122 patients who completed FU were 63 patients with established PBC, six de novo cases of PBC (10.2% of 59 initially at risk), 42 (34.4%) subjects were still AMA-positive without PBC, and 11 (9.0%) subjects were AMA-negative at FU. CONCLUSIONS: Anti-mitochondrial antibodies-positive patients without PBC at baseline infrequently developed PBC over six years of FU. AMA positivity represented a transient serological autoimmune phenomenon in a significant proportion of subjects