41 research outputs found

    Gut microbiota of homing pigeons shows summer-winter variation under constant diet indicating a substantial effect of temperature

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    BACKGROUND: Gut microbiotas play a pivotal role in host physiology and behaviour, and may affect host life-history traits such as seasonal variation in host phenotypic state. Generally, seasonal gut microbiota variation is attributed to seasonal diet variation. However, seasonal temperature and day length variation may also drive gut microbiota variation. We investigated summer–winter differences in the gut bacterial community (GBC) in 14 homing pigeons living outdoors under a constant diet by collecting cloacal swabs in both seasons during two years. Because temperature effects may be mediated by host metabolism, we determined basal metabolic rate (BMR) and body mass. Immune competence is influenced by day length and has a close relationship with the GBC, and it may thus be a link between day length and gut microbiota. Therefore, we measured seven innate immune indices. We expected the GBC to show summer–winter differences and to correlate with metabolism and immune indices. RESULTS: BMR, body mass, and two immune indices varied seasonally, other host factors did not. The GBC showed differences between seasons and sexes, and correlated with metabolism and immune indices. The most abundant genus (Lachnoclostridium 12, 12%) and associated higher taxa, were more abundant in winter, though not significantly at the phylum level, Firmicutes. Bacteroidetes were more abundant in summer. The Firmicutes:Bacteroidetes ratio tended to be higher in winter. The KEGG ortholog functions for fatty acid biosynthesis and linoleic acid metabolism (PICRUSt2) had increased abundances in winter. CONCLUSIONS: The GBC of homing pigeons varied seasonally, even under a constant diet. The correlations between immune indices and the GBC did not involve consistently specific immune indices and included only one of the two immune indices that showed seasonal differences, suggesting that immune competence may be an unlikely link between day length and the GBC. The correlations between the GBC and metabolism indices, the higher Firmicutes:Bacteroidetes ratio in winter, and the resemblance of the summer–winter differences in the GBC with the general temperature effects on the GBC in the literature, suggest that temperature partly drove the summer–winter differences in the GBC in homing pigeons. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s42523-022-00216-6

    De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

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    Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly conserved deubiquitinating enzyme. The females in our study have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Four females from our cohort were identified by targeted genetic testing because their phenotype was suggestive for USP9X mutations. In several females, pigment changes along Blaschko lines and body asymmetry were observed, which is probably related to differential (escape from) X-inactivation between tissues. Expression studies on both mRNA and protein level in affected-female-derived fibroblasts showed significant reduction of USP9X level, confirming the loss-of-function effect of the identified mutations. Given that some features of affected females are also reported in known ciliopathy syndromes, we examined the role of USP9X in the primary cilium and found that endogenous USP9X localizes along the length of the ciliary axoneme, indicating that its loss of function could indeed disrupt cilium-regulated processes. Absence of dysregulated ciliary parameters in affected female-derived fibroblasts, however, points toward spatiotemporal specificity of ciliary USP9X (dys-)function

    Solanum lycopersicum AUXIN RESPONSE FACTOR 9 regulates cell division activity during early tomato fruit development

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    The transformation of the ovary into a fruit after successful completion of pollination and fertilization has been associated with many changes at transcriptomic level. These changes are part of a dynamic and complex regulatory network that is controlled by phytohormones, with a major role for auxin. One of the auxin-related genes differentially expressed upon fruit set and early fruit development in tomato is Solanum lycopersicum AUXIN RESPONSE FACTOR 9 (SlARF9). Here, the functional analysis of this ARF is described. SlARF9 expression was found to be auxin-responsive and SlARF9 mRNA levels were high in the ovules, placenta, and pericarp of pollinated ovaries, but also in other plant tissues with high cell division activity, such as the axillary meristems and root meristems. Transgenic plants with increased SlARF9 mRNA levels formed fruits that were smaller than wild-type fruits because of reduced cell division activity, whereas transgenic lines in which SlARF9 mRNA levels were reduced showed the opposite phenotype. The expression analysis, together with the phenotype of the transgenic lines, suggests that, in tomato, ARF9 negatively controls cell division during early fruit development.</p

    Knowledge, beliefs, and practices regarding exclusive breastfeeding of infants younger than 6 months in Mozambique: a qualitative study

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    Only 37% of infants younger than 6 months in Mozambique are exclusively breastfed. A qualitative assessment was undertaken to identify the knowledge, beliefs, and practices around exclusive breastfeeding-specifically, those of mothers, fathers, grandmothers, and nurses-and to identify the support networks. Results show many barriers. In addition to receiving breast milk, infants receive water, traditional medicines, and porridges before 6 months of age. Many mothers had heard of the recommendation to exclusively breastfeed for 6 months. However, other family decision makers had heard less about exclusive breastfeeding, and many expressed doubts about its feasibility. Some of them expressed willingness to support exclusive breastfeeding if they were informed by health workers. Nurses know the benefits of exclusive breastfeeding and pass this information on verbally but have insufficient counseling skills. Interventions to improve exclusive breastfeeding should target family and community members and include training of health workers in counseling to resolve breastfeeding problems

    Influence of different cleaning practices on endotoxin exposure at sewage treatment plants

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    Exposure to endotoxin at sewage treatment plants is associated with an increased prevalence of work-related symptoms in sewage workers. Since cleaning activities are regarded as an important determinant of endotoxin exposure, workers' endotoxin exposure levels during different cleaning activities were compared in an experimental setting. Variables considered were water used (tap water, surface water or effluent), water pressure (low or high pressure, and a fire hose with the mouth open or obstructed), presence of mechanical ventilation and the distance between the worker and the object to be cleaned (concentration gradient). Experimental cleaning scenarios were defined, during which endotoxin exposure was measured with personal and stationary air sampling. Data were statistically analyzed with mixed effects models. The water used for cleaning appeared to have a large influence on endotoxin exposure, especially the use of effluent, which caused a factor 2.4 increase in exposure. Use of high pressure did not significantly add to the exposure. Use of a fire hose with fully opened mouth (spout opening) led to a 3-fold decrease in exposure when compared with a partially obstructed mouth. The presence of mechanical ventilation decreased endotoxin concentration in a room, provided that the capacity of the ventilation system was sufficient. The worker's distance to the object that was cleaned did not significantly influence exposur

    Gut microbiota of homing pigeons shows summer–winter variation under constant diet indicating a substantial effect of temperature

    Get PDF
    BackgroundGut microbiotas play a pivotal role in host physiology and behaviour, and may affect host life-history traits such as seasonal variation in host phenotypic state. Generally, seasonal gut microbiota variation is attributed to seasonal diet variation. However, seasonal temperature and day length variation may also drive gut microbiota variation. We investigated summer–winter differences in the gut bacterial community (GBC) in 14 homing pigeons living outdoors under a constant diet by collecting cloacal swabs in both seasons during two years. Because temperature effects may be mediated by host metabolism, we determined basal metabolic rate (BMR) and body mass. Immune competence is influenced by day length and has a close relationship with the GBC, and it may thus be a link between day length and gut microbiota. Therefore, we measured seven innate immune indices. We expected the GBC to show summer–winter differences and to correlate with metabolism and immune indices.ResultsBMR, body mass, and two immune indices varied seasonally, other host factors did not. The GBC showed differences between seasons and sexes, and correlated with metabolism and immune indices. The most abundant genus (Lachnoclostridium 12, 12%) and associated higher taxa, were more abundant in winter, though not significantly at the phylum level, Firmicutes. Bacteroidetes were more abundant in summer. The Firmicutes:Bacteroidetes ratio tended to be higher in winter. The KEGG ortholog functions for fatty acid biosynthesis and linoleic acid metabolism (PICRUSt2) had increased abundances in winter.ConclusionsThe GBC of homing pigeons varied seasonally, even under a constant diet. The correlations between immune indices and the GBC did not involve consistently specific immune indices and included only one of the two immune indices that showed seasonal differences, suggesting that immune competence may be an unlikely link between day length and the GBC. The correlations between the GBC and metabolism indices, the higher Firmicutes:Bacteroidetes ratio in winter, and the resemblance of the summer–winter differences in the GBC with the general temperature effects on the GBC in the literature, suggest that temperature partly drove the summer–winter differences in the GBC in homing pigeons

    Replication Data for: Gut microbiota of homing pigeons shows summer-winter variation under constant diet indicating a substantial effect of temperature

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    This dataset contains the required data, metadata files and R-script to replicate the statistical analyses from the paper in R using, among other, Phyloseq

    A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature

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    We report on a male patient with intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay. Array CGH analysis revealed a 649 kb duplication on chromosome 1p34.1. Only five patients with overlapping duplications have been reported thus far. Ten known genes are located in the duplicated region, including the POMGNT1 gene encoding for O-mannose beta-1,2-N-acetylglucosaminyltransferase. This gene, mutated in muscle-eye-brain disease, might be causative for the observed phenotype in our patient. (C) 2009 Elsevier Masson SAS. All rights reserved

    Determinants and drivers of young children's diets in Latin America and the Caribbean: Findings from a regional analysis.

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    The Latin America and Caribbean region exhibit some of the lowest undernutrition rates globally. Yet, disparities exist between and within countries and countries in the region increasingly face other pressing nutritional concerns, including overweight, micronutrient deficiencies and inadequate child feeding practices. This paper reports findings from a regional analysis to identify the determinants and drivers of children's diets, with a focus on the complementary feeding window between the age of 6-23 months. The analysis consists of a narrative review and descriptive data analysis, complemented with qualitative interviews with key informants in four countries: Guatemala, Paraguay, Peru and Uruguay. Findings indicate that poverty and inequality (disparities within countries by wealth and residence), unequal access to services, inadequate coverage of social programmes and lack of awareness on appropriate feeding practices are important drivers for inadequate diets. We conclude that countries in the region need to invest in policies to tackle overweight and micronutrient deficiencies in young children, considering inequalities between and within countries, enhance coverage of social protection programmes, improve coordination between sectors to improve children's diets and expand the coverage and intensity of awareness campaigns on feeding practices, using iterative programme designs
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