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

Can positive matrix factorization identify sources of organic trace gases at the continental GAW site Hohenpeissenberg?

From the rural Global Atmosphere Watch (GAW) site Hohenpeissenberg in the pre-alpine area of Southern Germany, a dataset of 24 C2–C8 non-methane hydrocarbons over a period of seven years was analyzed. Receptor modeling was performed by Positive Matrix Factorization (PMF) and the resulting factors were compared to literature source profiles. Photochemical aging during transport to the relatively remote site violates the PMF prerequisite of mass conservation from source to receptor. However, previous studies showed plausible results with this method at remote sites; the applicability and restrictions of the PMF model to such a remote dataset and the influence of photochemical processing on the interpretability of the results are discussed. A six factor solution showed a high stability and the most plausible results. In addition to biogenic sources and remote sources of very stable compounds – reflecting the continental background – four additional anthropogenic factors were resolved that could be divided into two short- and two long-lived patterns from evaporative sources and incomplete combustion processes, respectively. A method to increase the uncertainty for each individual compound by including photochemical reactivity did not improve the results, but decreased the stability of the model output. The contribution of the different source categories at the site over the entire period was, in decreasing order: remote sources, long-lived evaporative sources, residential heating and long-lived combustion sources, short-lived evaporative sources, short-lived combustion sources, and biogenic sources. Despite a low overall impact, biogenic sources played an important role during summer, in particular in terms of reactivity

Can positive matrix factorization help to understand patterns of organic trace gases at the continental Global Atmosphere Watch site Hohenpeissenberg?

From the rural Global Atmosphere Watch (GAW) site Hohenpeissenberg in the pre-alpine area of southern Germany, a data set of 24 C₂–C₈ non-methane hydrocarbons over a period of 7 years was analyzed. Receptor modeling was performed by positive matrix factorization (PMF) and the resulting factors were interpreted with respect to source profiles and photochemical aging. Differing from other studies, no direct source attribution was intended because, due to chemistry along transport, mass conservation from source to receptor is not given. However, at remote sites such as Hohenpeissenberg, the observed patterns of non-methane hydrocarbons can be derived from combinations of factors determined by PMF. A six-factor solution showed high stability and the most plausible results. In addition to a biogenic and a background factor of very stable compounds, four additional anthropogenic factors were resolved that could be divided into two short- and two long-lived patterns from evaporative sources/natural gas leakage and incomplete combustion processes. The volume or mass contribution at the site over the entire period was, in decreasing order, from the following factor categories: background, gas leakage and long-lived evaporative, residential heating and long-lived combustion, short-lived evaporative, short-lived combustion, and biogenic. The importance with respect to reactivity contribution was generally in reverse order, with the biogenic and the short-lived combustion factors contributing most. The seasonality of the factors was analyzed and compared to results of a simple box model using constant emissions and the photochemical decay calculated from the measured annual cycles of OH radicals and ozone. Two of the factors, short-lived combustion and gas leakage/long-lived evaporative, showed winter/summer ratios of about 9 and 7, respectively, as expected from constant source estimations. Contrarily, the short-lived evaporative emissions were about 3 times higher in summer than in winter, while residential heating/long-lived combustion emissions were about 2 times higher in winter than in summer

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

Building Principles and Structural Motifs in TiOx Ultrathin Films on a (111) Substrate

The competition between rectangular and hexagonal phases in TiOx ultrathin (monolayer) films grown on a Pt(111) surface is discussed and rationalized on the basis of general building principles for these pseudoepitaxial oxide phases on a (111) metal substrate. A novel hexagonal reduced phase is also presented for the first time, obtained by thermal treatment at high temperature (similar to 1000 K), and its atomistic structure is unveiled through a combination of STM experiments and theoretical simulations. A consistent picture is obtained for a class of structural families for ultrathin oxide phases on close-packed single-crystal metal surfaces