Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood

We report on a female who is compound heterozygote for two new point mutations in the CYP19 gene. The allele inherited from her mother presented a base pair deletion (C) occurring at P408 (CCC, exon 9), causing a frameshift that results in a nonsense codon 111 bp (37 aa) further down in the CYP19 gene. The allele inherited from her father showed a point mutation from G-->A at the splicing point (canonical GT to mutational AT) between exon and intron 3. This mutation ignores the splice site and a stop codon 3 bp downstream occurs. Aromatase deficiency was already suspected because of the marked virilization occurring prepartum in the mother, and the diagnosis was confirmed shortly after birth. Extremely low levels of serum estrogens were found in contrast to high levels of androgens. Ultrasonographic follow-up studies revealed persistently enlarged ovaries (19.5-22 mL) during early childhood (2 to 4 yr) which contained numerous large cysts up to 4.8 x 3.7 cm and normal-appearing large tertiary follicles already at the age of 2 yr. In addition, both basal and GnRH-induced FSH levels remained consistently strikingly elevated. Low-dose estradiol (E2) (0.4 mg/day) given for 50 days at the age of 3 6/12 yr resulted in normalization of serum gonadotropin levels, regression of ovarian size, and increase of whole body and lumbar spine (L1-L4) bone mineral density. The FSH concentration and ovarian size returned to pretreatment levels shortly (150 days) after cessation of E2 therapy. Therefore, we recommend that affected females be treated with low-dose E2 in amounts sufficient to result in physiological prepubertal E2 concentrations using an ultrasensitive estrogen assay. However, E2 replacement needs to be adjusted throughout childhood and puberty to ensure normal skeletal maturation and adequate adolescent growth spurt, normal accretion of bone mineral density, and, at the appropriate age, female secondary sex maturation.

Colocalization of a large heterodimeric proteoglycan with basement membrane proteins in cultured cells.

A novel large heterodimeric dermatan sulfate proteoglycan with core proteins of 460 and 300 kDa, respectively, had been described as a secretory product of human fetal skin fibroblasts (Breuer et al., J. Biol. Chem. 266, 13224-13232 (1991)). Pulse-chase experiments showed a preferential association of the proteoglycan with the cell membrane. Immunogold labeling indicated its localization in fibrils on the cell surface as well as in fibrillar extensions from the cell body. Immunofluorescence studies yielded a fibrillar and punctate staining pattern which was also seen in cultured human and porcine endothelial cells. Dot-like structures were observed in transformed human keratinocytes. Various immunocytochemical double-labeling experiments indicated a remarkable colocalization of the proteoglycan with fibronectin, laminin, perlecan, and type IV collagen whereas only occasionally a colocalization with chondroitin-6-sulfate was found. No evidence for an enrichment of the proteoglycan in vinculin-containing structures was obtained. These results suggest that the proteoglycan is a widely distributed macromolecule which can associate with basement membrane components. Preliminary findings in rat cornea supported this conclusion.

Acoustic Detection of Organic Enrichment in Sediments at a Salmon Farm Is Confirmed by Independent Groundtruthing Methods

Acoustic backscatter contrast in depositional sediments under salmon farm cages in the Bay of Fundy, Canada, was correlated with localized changes in (unknown) sediment geotechnical properties, as indicated by 4 independent measures of organic enrichment. Sediment total sulfides and redox potentials, enzyme hydrolyzable amino acids, sediment profile imaging and macrofaunal samples, taken at mid-cage positions, each rejected the null hypothesis that salmon cage footprints, defined acoustically as high backscatter areas, were indistinguishable from nearby reference areas. Acoustic backscatter imaging appears capable of mapping organic enrichment in depositional sediments caused by excessive inputs of salmon farm wastes associated with intensive aquaculture.

Vom ersten bis zum zweiten Tempel : Geschichte der israelitischen Cultus-Gemeinde in Wien (1820 - 1860)

von G. Wolf

Effect of temperature and diet on wound healing in Atlantic salmon (Salmo salar L.).

Compromised skin integrity of farmed Atlantic salmon, commonly occurring under low temperature and stressful conditions, has major impacts on animal welfare and economic productivity. Even fish with minimal scale loss and minor wounds can suffer from secondary infections, causing downgrading and mortalities. Wound healing is a complex process, where water temperature and nutrition play key roles. In this study, Atlantic salmon (260 g) were held at different water temperatures (4 or 12 °C) and fed three different diets for 10 weeks, before artificial wounds were inflicted and the wound healing process monitored for 2 weeks. The fish were fed either a control diet, a diet supplemented with zinc (Zn) or a diet containing a combination of functional ingredients in addition to Zn. The effect of diet was assessed through subjective and quantitative skin histology and the transcription of skin-associated chemokines. Histology confirmed that wound healing was faster at 12 °C. The epidermis was more organised, and image analyses of digitised skin slides showed that fish fed diets with added Zn had a significantly larger area of the epidermis covered by mucous cells in the deeper layers after 2 weeks, representing more advanced healing progression. Constitutive levels of the newly described chemokines, herein named CK 11A, B and C, confirmed their preferential expression in skin compared to other tissues. Contrasting modulation profiles at 4 and 12 °C were seen for all three chemokines during the wound healing time course, while the Zn-supplemented diets significantly increased the expression of CK 11A and B during the first 24 h of the healing phase.

Entgegnung auf ein Gutachten von Hirsch B. Fassel, Oberrabbiner zu Gr. Kanischa

Joseph Gugenheimer

Entgegnung auf ein Gutachten von Hirsch B. Fassel, Oberrabbiner zu Gr. Kanischa

Joseph Gugenheimer

Harmonie-Fest-Messe in Es-Dur : für Sopran, Alt, Tenor ad lib., Bass, Flöte, 2 B-Clarinetten, 1 Flügelhorn in B, 1 Euphonion in B, 2 chrom. Trompeten in Es, 2 Hörner in Es, und Bombardon mit ausgesetzter Orgel als Directions-Stimme obligat ; ferner zur beliebigen Verstärkung bei Aufführungen im Freien 1 Piston in B, 2tes. Flügelhorn in B, Bombardino in B, Posaune und Pauken, nicht obligat ; op. 237

componirt von Johann Obersteiner

Radiocarbon, isotope, biogenic, and 230Th measurements for sediment core RC10-196

The subarctic North Pacific Ocean holds a large CO2 reservoir that is currently isolated from the atmosphere by a low-salinity layer. It has recently been hypothesized that the reorganization of these high-CO2 waters may have played a crucial role in the degassing of carbon dioxide to the atmosphere during the last deglaciation. This reorganization would leave some imprint on paleo-productivity records. Here we present 230Th-normalized biogenic fluxes from an intermediate depth sediment core in the Northwest Pacific (RC10-196, 54.7°N, 177.1°E, 1007 m) and place them within the context of a synthesis of previously-published biogenic flux data from 49 deep-sea cores north of 20°N, ranging from 420 to 3968 m water depth. The 230Th-normalized opal, carbonate, and organic carbon fluxes from RC10-196 peak approximately 13,000 calendar years BP during the Bølling/Allerød (B/A) period. Our data synthesis suggests that biogenic fluxes were in general lowest during the last glacial period, increased somewhat in the Northwest Pacific during Heinrich Event 1, and reached a maximum across the entire North Pacific during the B/A period. We evaluate several mechanisms as possible drivers of deglacial change in biogenic fluxes in the North Pacific, including changes in preservation, sediment focusing, sea ice extent, iron inputs, stratification, and circulation shifts initiated in the North Atlantic and North Pacific. Our analysis suggests that while micronutrient sources likely contributed to some of the observed changes, the heterogeneity in timing of glaciogenic retreat and sea level make these mechanisms unlikely causes of region-wide contemporaneous peaks in export production. We argue that paleo-observations are most consistent with ventilation increases in both the North Pacific (during H1) and North Atlantic (during B/A) being the primary drivers of increases in biogenic flux during the deglaciation, as respectively they were likely to bring nutrients to the surface via increased vertical mixing and shoaling of the global thermocline.

Travel time and speed of gray whales and amphipod abundance along Chukotka Peninsula in 2006

The purpose of this study was to evaluate summer and fall residency and habitat selection by gray whales, Eschrichtius robustus, together with the biomass of benthic amphipod prey on the coastal feeding grounds along the Chukotka Peninsula. Thirteen gray whales were instrumented with satellite transmitters in September 2006 near the Chukotka Peninsula, Russia. Nine transmitters provided positions from whales for up to 81 days. The whales travelled within 5 km of the Chukotka coast for most of the period they were tracked with only occasional movements offshore. The average daily travel speeds were 23 km/day (range 9-53 km/day). Four of the whales had daily average travel speeds <1 km/day suggesting strong fidelity to the study area. The area containing 95% of the locations for individual whales during biweekly periods was on average 13,027 km**2 (range 7,097-15,896 km**2). More than 65% of all locations were in water <30 m, and between 45 and 70% of biweekly kernel home ranges were located in depths between 31 and 50 m. Benthic density of amphipods within the Bering Strait at depths <50 m was on average ~54 g wet wt/m**2 in 2006. It is likely that the abundant benthic biomass is more than sufficient forage to support the current gray whale population. The use of satellite telemetry in this study quantifies space use and movement patterns of gray whales along the Chukotka coast and identifies key feeding areas.

Environmental context of selected samples from the Tara Oceans Expedition (2009-2013)

The present data set provides contextual environmental data for samples from the Tara Oceans Expedition (2009-2013) that were selected for publication in a special issue of the SCIENCE journal (see related references below). The data set provides calculated averages of mesaurements made at the sampling location and depth, calculated averages from climatologies (AMODIS, VGPM) and satellite products.

Essays upon heredity and kindred biological problems, by Dr. August Weismann. Ed. by Edward B. Poulton, Selmar Schönland, and Arthur E. Shipley. Authorised translation.

v.1

Identification of the salmonid IL-17A/F1a/b, IL-17A/F2b, IL-17A/F3 and IL-17N genes and analysis of their expression following in vitro stimulation and infection

Date of Acceptance: 15/04/2015