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Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco‐cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Clinical and molecular characterizations are essential in preventing potential complications. Disease‐causing mutations remain unknown for about 25% of patients with albinism. These guidelines have been developed for the diagnosis and management of syndromic and non‐syndromic forms of albinism, based on a systematic review of the scientific literature. These guidelines comprise clinical and molecular characterization, diagnosis, therapeutic approach and management. [ABSTRACT FROM AUTHOR]

Objective: To assess the long-term outcome of postmenopausal women diagnosed with non-atypical endometrial hyperplasia (NEH).Methods: This was a retrospective study of women aged 55 or older who underwent endometrial sampling in our academic medical center between 1997 and 2008. Women who had a current or recent (< 2 years) histological diagnosis of NEH were included in the study group and were compared with those diagnosed with atrophic endometrium (AE). Outcome data were obtained until February 2018. The main outcomes were risk of progression to endometrial carcinoma and risk of persistence, recurrence or new development of endometrial hyperplasia (EH) ('persistent EH'). Logistic regression analysis was used to identify covariates that were independent risk factors for progression to endometrial cancer or persistent EH.Results: During the study period, 1808 women aged 55 or older underwent endometrial sampling. The median surveillance time was 10.0 years. Seventy-two women were found to have a current or recent diagnosis of NEH and were compared with 722 women with AE. When compared to women with AE, women with NEH had significantly higher body mass index (33.9 kg/m2 vs 30.6 kg/m2 ; P = 0.01), greater endometrial thickness (10.00 mm vs 6.00 mm; P = 0.01) and higher rates of progression to type-1 endometrial cancer (8.3% vs 0.8%; P = 0.0003) and persistent NEH (22.2% vs 0.7%; P < 0.0001). They also had a higher rate of progression to any type of uterine cancer or persistent EH (33.3% vs 3.5%; P < 0.0001). Women with NEH had a significantly higher rate of future surgical intervention (51.4% vs 15.8%; P < 0.0001), including future hysterectomy (34.7% vs 9.8%; P < 0.0001). On multivariable logistic regression analysis, only NEH remained a significant risk factor for progression to endometrial cancer or persistence of EH.Conclusions: Postmenopausal women with NEH are at significant risk for persistent EH and progression to endometrial cancer, at rates higher than those reported previously. Guidelines for the appropriate management of postmenopausal women with NEH are needed in order to decrease the rate of persistent disease or progression to cancer. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Among these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. In this work, we describe 8 individuals presenting with an MA phenotype. Among them, 7 are carrying biallelic recessive FOXE3 mutations and 2 of these have novel mutations: p.(Ala78Thr) and p.(Arg104Cys). The last of our patients is carrying in the heterozygous state the recessive p.(Arg90Leu) mutation in the FOXE3 gene. To further understand FOXE3 involvement in this wide spectrum of ocular anomalies with 2 different patterns of inheritance, we reviewed all individuals with ocular abnormalities described in the literature for which a FOXE3 mutation was identified. This review demonstrates that correlations exist between the mutation type, mode of inheritance and the phenotype severity. Furthermore, understanding the genetic basis of these conditions will contribute to overall understanding of eye development, improve the quality of care, genetic counseling and, in future, gene‐based therapies. [ABSTRACT FROM AUTHOR]

Livestock systems play a key role in global sustainability challenges like food security and climate change, yet many unknowns and large uncertainties prevail. We present a systematic, spatially explicit assessment of uncertainties related to grazing intensity (GI), a key metric for assessing ecological impacts of grazing, by combining existing data sets on (a) grazing feed intake, (b) the spatial distribution of livestock, (c) the extent of grazing land, and (d) its net primary productivity (NPP). An analysis of the resulting 96 maps implies that on average 15% of the grazing land NPP is consumed by livestock. GI is low in most of the world's grazing lands, but hotspots of very high GI prevail in 1% of the total grazing area. The agreement between GI maps is good on one fifth of the world's grazing area, while on the remainder, it is low to very low. Largest uncertainties are found in global drylands and where grazing land bears trees (e.g., the Amazon basin or the Taiga belt). In some regions like India or Western Europe, massive uncertainties even result in GI > 100% estimates. Our sensitivity analysis indicates that the input data for NPP, animal distribution, and grazing area contribute about equally to the total variability in GI maps, while grazing feed intake is a less critical variable. We argue that a general improvement in quality of the available global level data sets is a precondition for improving the understanding of the role of livestock systems in the context of global environmental change or food security. [ABSTRACT FROM AUTHOR]

The hypothesis that dispersin B (DspB), an enzyme from the periodontal pathogen Aggregatibacter actinomycetemcomitans that degrades the extracellular matrix polysaccharide PGA, will inhibit biofilm formation of the soft rot pathogen Pectobacterium carotovorum subsp. carotovorum in infected plants was tested by constitutive expression of DspB in tobacco plants. All the transgenic plants expressed properly folded and active DspB enzyme, although at different expression levels. In virulence assays, even the transgenic plant line D10, which produced a low level of DspB compared to other lines, showed significant resistance against P. carotovorum subsp. carotovorum, suggesting that DspB could be a valuable agent for biological control of P. carotovorum subsp. carotovorum infection in crop plants. [ABSTRACT FROM AUTHOR]

Considerable attention has been paid to identifying genetic influences and gene-environment interactions that increase vulnerability to environmental stressors, with promising but inconsistent results. A nonhuman primate model is presented here that allows assessment of genetic influences in response to a stressful life event for a behavioural trait with relevance for psychopathology. Genetic and environmental influences on free-choice novelty seeking behaviour were assessed in a pedigreed colony of vervet monkeys before and after relocation from a low stress to a higher stress environment. Heritability of novelty seeking scores, and genetic correlations within and between environments were conducted using variance components analysis. The results showed that novelty seeking was markedly inhibited in the higher stress environment, with effects persisting across a 2-year period for adults but not for juveniles. There were significant genetic contributions to novelty seeking scores in each year ( h2 = 0.35-0.43), with high genetic correlations within each environment (rhoG > 0.80) and a lower genetic correlation (rhoG = 0.35, non-significant) between environments. There were also significant genetic contributions to individual change scores from before to after the move ( h2 = 0.48). These results indicate that genetic regulation of novelty seeking was modified by the level of environmental stress, and they support a role for gene-environment interactions in a behavioural trait with relevance for mental health. [ABSTRACT FROM AUTHOR]

The article examines possible evidence for infanticide among Tursiops truncatus or bottlenose dolphins off Saint Augustine, Florida. It describes the behaviors of a group of bottlenose dolphins recorded from 65-m aerial blimp that was used at the time of health assessment survey of North Atlantic right whale or Eubalaena glacialis. It notes that four simultaneously running cameras, such as Sony HDC950 and Woods Hole Oceanographic Institution Adimec cameras, were used to record the footage.

Increasing rates of childhood obesity in the USA and other Western countries are a cause for serious public health concern. Neighborhood and community environments are thought to play a contributing role in the development of obesity among youth, but it is not well understood which types of physical environmental characteristics have the most potential to influence obesity outcomes. This paper reports the results of a systematic review of quantitative research examining built and biophysical environmental variables associated with obesity in children and adolescents through physical activity. Literature searches in PubMed, PsychInfo and Geobase were conducted. Fifteen quantitative studies met the inclusion criteria for this systematic review. The majority of studies were cross-sectional and published after 2005. Overall, few consistent findings emerged. For children, associations between physical environmental variables and obesity differed by gender, age, socioeconomic status, population density and whether reports were made by the parent or child. Access to equipment and facilities, neighborhood pattern (e.g. rural, exurban, suburban) and urban sprawl were associated with obesity outcomes in adolescents. For most environmental variables considered, strong empirical evidence is not yet available. Conceptual gaps, methodological limitations and future research directions are discussed. [ABSTRACT FROM AUTHOR]

An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B12 presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and lactic acidosis but low methylmalonic acid in plasma and urine. Multiple deficiency of oxidative phosphorylation was found in the patient’s liver. We suggest that patients with B12-sensitive methylmalonic aciduria who have a milder clinical course should be carefully monitored for long-term complications. [ABSTRACT FROM AUTHOR]

Background/aims: Intergeneric bacterial coaggregation may play an important role in plaque development. Methods: In this study we investigated the coaggregation reaction between two periodontal pathogens, Aggregatibacter actinomycetemcomitans and Fusobacterium nucleatum. Results: Previous studies showed that A. actinomycetemcomitans serotype b strains coaggregate with F. nucleatum strain PK1594, and that A. actinomycetemcomitans serotype b O-polysaccharide (O-PS) is the receptor responsible for coaggregation between A. actinomycetemcomitans and F. nucleatum. A. actinomycetemcomitans serotype f O-PS has been shown to be structurally and antigenically related to serotype b O-PS. In the present study we show that A. actinomycetemcomitans strain CU1060N, a serotype f strain, also coaggregated with F. nucleatum PK1594. Like coaggregation between serotype b strains and F. nucleatum, coaggregation between CU1060N and F. nucleatum was inhibited by galactose. An O-PS mutant of CU1060N failed to coaggregate with F. nucleatum. Conclusion: We concluded that A. actinomycetemcomitans serotype f O-PS, like serotype b O-PS, mediates coaggregation between A. actinomycetemcomitans and fusobacteria. [ABSTRACT FROM AUTHOR]

The article presents a preliminary examination of sex differences in tactile interactions among juvenile atlantic spotted dolphins. An overview, juvenile are an age class of animals that can survive without adult caretakers but are still prepubescent, while extended juvenile periods are found in many families of large-brained social mammals with complex social structures, including elephants, cetaceans and primates. In addition, studies considering the adaptive value of lengthened juvenile periods suggests that juvenile use this extended prereproductive period to gain experience, practice needed skill, develop social bonds, and learn the behaviors needed to interact successful as adults in a complex social community.

Abstract The Lund–Potsdam–Jena Dynamic Global Vegetation Model (LPJ) combines process-based, large-scale representations of terrestrial vegetation dynamics and land-atmosphere carbon and water exchanges in a modular framework. Features include feedback through canopy conductance between photosynthesis and transpiration and interactive coupling between these ‘fast’ processes and other ecosystem processes including resource competition, tissue turnover, population dynamics, soil organic matter and litter dynamics and fire disturbance. Ten plants functional types (PFTs) are differentiated by physiological, morphological, phenological, bioclimatic and fire-response attributes. Resource competition and differential responses to fire between PFTs influence their relative fractional cover from year to year. Photosynthesis, evapotranspiration and soil water dynamics are modelled on a daily time step, while vegetation structure and PFT population densities are updated annually. Simulations have been made over the industrial period both for specific sites where field measurements were available for model evaluation, and globally on a 0.5°° × 0.5°° grid. Modelled vegetation patterns are consistent with observations, including remotely sensed vegetation structure and phenology. Seasonal cycles of net ecosystem exchange and soil moisture compare well with local measurements. Global carbon exchange fields used as input to an atmospheric tracer transport model (TM2) provided a good fit to observed seasonal cycles of CO2 concentration at all latitudes. Simulated inter-annual variability of the global terrestrial carbon balance is in phase with and comparable in amplitude to observed variability in the growth rate of atmospheric CO2 . Global terrestrial carbon and water cycle parameters (pool sizes and fluxes) lie within their accepted ranges. The model is being used to study past, present and future... [ABSTRACT FROM AUTHOR]

Cells of the periodontal pathogen Actinobacillus actinomycetemcomitans exhibit tight adherence to surfaces such as glass, plastic and hydroxyapatite, a property that probably plays an important role in the ability of this bacterium to colonize teeth and other surfaces. Tight adherence is mediated by long fibrils of bundled pili (fimbriae) that form on the surface of the cell. The flp-1 gene encodes the major pilin protein component of A. actinomycetemcomitans fimbriae. In this study we compared flp-1 DNA sequences from 43 strains of A. actinomycetemcomitans isolated in Europe, Japan and the United States and identified seven distinct flp-1 allelic classes. DNA and predicted protein sequences were almost completely conserved within each flp-1 class but were highly divergent between classes. Most amino acid substitutions occurred in the C-terminus of the pilin protein, a region that has been shown to be important for the bundling and adhesive properties of the pili. flp-1 classes correlated with serotypes and 16S rRNA genotypes in most strains. At least five strains showed evidence of horizontal transfer of flp-1 between strains of different serotypes and 16S rRNA genotypes. Four of the seven flp-1 classes were present in geographically diverse isolates. Strains representing all seven flp-1 classes, but not a strain carrying a transposon insertion in flp-1, bound avidly to polystyrene in an in vitro adherence assay. Strains representing six of the seven flp-1 classes were isolated from localized juvenile periodontitis patients, suggesting that phylogenetically diverse strains carry pathogenic potential. Our findings provide a framework for future biochemical, immunological and genetic studies of A. actinomycetemcomitans fimbriae. [ABSTRACT FROM AUTHOR]

Obesity is associated with endometrial cancer in women with postmenopausal bleeding (PMB), however, its effect on benign uterine pathology has been poorly studied. Obesity was an independent risk factor for endometrial polyp diagnosis, recurrent PMB and need for surgical intervention in postmenopausal women undergoing EMB. [Extracted from the article]

Our recent study revealed that soluble factors derived from accessory cells (AC; monocytes) and physical interaction with T cells of the accessory cells are both required for the induction of the proliferation of human peripheral blood T cells by anti-CD3 antibody coupled on latex beads. The accessory cell-derived soluble factor could be replaced by IL-1 and IL-6, and the role of live macrophages for physical interaction with T cells was found to be replaceable with paraformaldehyde(PFA)-fixed macrophages, provided the macrophages were pretreated with interferon-gamma (IFN-γ) before fixation. Quantitative analysis in the present study revealed that IL-1 and IL-6 act synergistically to induce T-cell proliferation in the above system but either one of the factors alone reveals only a marginal or weak activity. Furthermore, it was shown that the potentiating activity of the culture supernatants of monocytes was substantially inhibited by anti-IL-6 antibody. Taken together with our previous results that anti-IL-1 serum strongly inhibited the potentiating activity of the culture supernatant, these results indicate that the main responsible molecules in the culture supernatant are IL-1 and IL-6, although a presence of other effective factors is not excluded. The anti-CD3-induced thymidine uptake by T cells in the presence of IL-1 and IL-6 was significantly inhibited by anti-Tac antibody, suggesting that the proliferation of T cells in this system is mostly mediated by a IL-2-dependent pathway. Our study further showed that accessory cells seem to acquire cell surface properties necessary for the effective interaction with T cells during 6-24 hr of culture with IFN-γ. Presumably, a certain molecule(s) required for the interaction is induced on the cell surface of the AC by IFN-γ. [ABSTRACT FROM AUTHOR]

The immunomodulatory potential of Neisseria meningitidis was investigated. Spleen cells from mice injected intraperitoneally with low to moderate doses of meningococci (104–107) were found to display enhanced responses to the mitogenji lipopoly saccharide (LPS), phytohaemagglutinin (PHA), and concanavalin A (Con A). In contrast, high doses of meningococci (108–109) caused a marked decrease in mitogenic reactivity. Meningococci-injected mice also displayed a dose-dependent suppression of a primary anti-sheep red blood cell (SRBC) plaque-forming cell (PFC) response. The timing between the injection of SRBC and of meningococci appeared to play an important role in the induction of suppression by the organisms. Thus, decreased PFC responses were observed only when the bacteria were injected prior to the antigen. When meningococci were injected at the same time or after SRBC. normal or even increased PFC responses developed. Kinetic experiments showed that the onset of suppression of both mitogen and antibody responses by meningococci was very rapid, so that by 6–7 h after injection of the bacteria, mice showed markedly reduced mitogen responses and became essentially unable to mount an antibody response against SRBC. Suppression of mitogen responses was relatively transient, since reactivity returned to normal after 48h. However, the ability of infected animals to mount a normal anti-SRBC response did not fully return until 12 days after the infection. Spleen cells from meningococci-infected mice also showed markedly depressed PFC responses when stimulated with SRBC in vitro but failed to suppress the response of normal spleen cells in mixed cultures. These observations indicate that putative suppressor cells, if they exist at all. are too insignificant in terms of numbers and/or efficiency to account for the observed immunosuppression. A more likely explanation for the inhibition. which is supported by our data, presented here and elsewhere, is that certain surface components of meningococci are capable of imparting immunosuppressive signals directly onto target lymphocytes. [ABSTRACT FROM AUTHOR]