Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the ...studied population. Here, we report the molecular analysis of 81 patients with OI followed at reference centers in Brazil and France presenting COL1A1 or COL1A2 variants. Patients were submitted to clinical and radiographic dental examinations to diagnose the presence of DI. In addition, a systematic literature search and a descriptive statistical analysis were performed to investigate OI/DI phenotype–genotype correlation in a worldwide sample. In our cohort, 50 patients had COL1A1 pathogenic variants, and 31 patients had COL1A2 variants. A total of 25 novel variants were identified. Overall, data from a total of 906 individuals with OI were assessed. Results show that DI was more frequent in severe and moderate OI cases. DI prevalence was also more often associated with COL1A2 (67.6%) than with COL1A1 variants (45.4%) because COL1A2 variants mainly lead to qualitative defects that predispose to DI more than quantitative defects. For the first time, 4 DI hotspots were identified. In addition, we showed that 1) glycine substitution by branched and charged amino acids in the α2(I) chain and 2) substitutions occurring in major ligand binding regions—MLRB2 in α1(I) and MLBR 3 in α2(I)—could significantly predict DI (P < 0.05). The accumulated variant data analysis in this study provides a further basis for increasing our comprehension to better predict the occurrence and severity of DI and appropriate OI patient management.
The Amazon Basin plays key roles in the carbon and water cycles, climate change, atmospheric chemistry, and biodiversity. It has already been changed significantly by human activities, and more ...pervasive change is expected to occur in the coming decades. It is therefore essential to establish long-term measurement sites that provide a baseline record of present-day climatic, biogeochemical, and atmospheric conditions and that will be operated over coming decades to monitor change in the Amazon region, as human perturbations increase in the future. The Amazon Tall Tower Observatory (ATTO) has been set up in a pristine rain forest region in the central Amazon Basin, about 150 km northeast of the city of Manaus. Two 80 m towers have been operated at the site since 2012, and a 325 m tower is nearing completion in mid-2015. An ecological survey including a biodiversity assessment has been conducted in the forest region surrounding the site. Measurements of micrometeorological and atmospheric chemical variables were initiated in 2012, and their range has continued to broaden over the last few years. The meteorological and micrometeorological measurements include temperature and wind profiles, precipitation, water and energy fluxes, turbulence components, soil temperature profiles and soil heat fluxes, radiation fluxes, and visibility. A tree has been instrumented to measure stem profiles of temperature, light intensity, and water content in cryptogamic covers. The trace gas measurements comprise continuous monitoring of carbon dioxide, carbon monoxide, methane, and ozone at five to eight different heights, complemented by a variety of additional species measured during intensive campaigns (e.g., VOC, NO, NO2, and OH reactivity). Aerosol optical, microphysical, and chemical measurements are being made above the canopy as well as in the canopy space. They include aerosol light scattering and absorption, fluorescence, number and volume size distributions, chemical composition, cloud condensation nuclei (CCN) concentrations, and hygroscopicity. In this paper, we discuss the scientific context of the ATTO observatory and present an overview of results from ecological, meteorological, and chemical pilot studies at the ATTO site.
Objective: To describe and analyse the clinical characteristics of 100 patients with antiphospholipid syndrome (APS) associated with infections. Methods: Patients were identified by a computer ...assisted search (Medline) of published reports to locate all cases of APS published in English, Spanish, and French from 1983 to 2003. The bilateral Fisher exact test was used for statistics. Results: 59 female and 41 male patients were identified (mean (SD) age, 32 (18) years (range 1 to 78)): 68 had primary APS, 27 had systemic lupus erythematosus, two had “lupus-like” syndrome, two had inflammatory bowel disease, and one had rheumatoid arthritis. APS presented as a catastrophic syndrome in 40% of cases. The main clinical manifestations of APS included: pulmonary involvement (39%), skin involvement (36%), and renal involvement (35%; nine with renal thrombotic microangiopathy, RTMA). The main associated infections and agents included skin infection (18%), HIV (17%), pneumonia (14%), hepatitis C (13%), and urinary tract infection (10%). Anticoagulation was used in 74%, steroids in 53%, intravenous immunoglobulins in 20%, cyclophosphamide in 12%, plasma exchange in 12%, and dialysis in 9.6%. Twenty three patients died following infections and thrombotic episodes (16 with catastrophic APS). Patients given steroids had a better prognosis (p = 0.024). The presence of RTMA and requirement for dialysis carried a worse prognosis (p = 0.001 and p = 0.035, respectively). Conclusions: Various different infections can be associated with thrombotic events in patients with APS, including the potentially lethal subset termed catastrophic APS. Aggressive treatment with anticoagulation, steroids, and appropriate antibiotic cover is necessary to improve the prognosis.
Extreme weather events radically alter ecosystems. When ecological damage persists, selective pressures on individuals can change, leading to phenotypic adjustments. For group-living animals, social ...relationships may be a mechanism enabling adaptation to ecosystem disturbance. Yet whether such events alter selection on sociality and whether group-living animals can, as a result, adaptively change their social relationships remain untested. We leveraged 10 years of data collected on rhesus macaques before and after a category 4 hurricane caused persistent deforestation, exacerbating monkeys’ exposure to intense heat. In response, macaques demonstrated persistently increased tolerance and decreased aggression toward other monkeys, facilitating access to scarce shade critical for thermoregulation. Social tolerance predicted individual survival after the hurricane, but not before it, revealing a shift in the adaptive function of sociality.
Editor’s summary Changing environments generally lead to shifts in the availability of essential resources. Such shifts can be major selective forces and will happen especially rapidly when changes are caused by extreme events such as hurricanes. Testard et al . looked at the response of an isolated population of rhesus macaques in Puerto Rico to the loss of tree cover caused by the category 4 Hurricane Maria. Reduced tree cover led to a reduction in shade, which is critical for the monkeys. In response, there was a general increase in social tolerance among the animals in the population. The most tolerant animals had the highest survival. —Sacha Vignieri
was originally described from populations collected in the United States. In the original description, ribosomal DNA loci from
sp. collected in Chile and Argentina were similar to
, suggesting this ...nematode originated in this region of South America. In an effort to find additional populations of
collection trips were conducted in 2017 and 2020 in the Antofagasta and Arica y Parinacota Regions in Northern Chile, respectively.
sp. were more prevalent in Antofagasta (17 samples collected, 53% positive for
sp.) than in Arica y Parincota (16 samples collected, 13% positive for
sp.). The genomes of single cysts (N
3) from four fields were sequenced. Additionally, the genomes of the
population from Oregon and a
sp. population originally collected in Antofagasta Region but maintained in culture in France were also sequenced. Based upon a HSP90 sequenced data mined from WSG data, all of the populations from the Antofagasta Region were
and grouped in a monophyletic clade. A population collected from the Arica y Parincota Region was identified as
based upon HSP90 data. Genome-wide SNP patterns of the
populations showed strong clustering based on geographic location indicating that
has high genetic diversity within Chile. A phylogenetic tree derived from 168,354 binary SNPs in the nuclear genome showed separate but distinct clustering of the Oregon population and the population from Antofagasta maintained in France. The Oregon
population subtended the Chilean clades and placed on a long branch representing approximately twice the genetic variation observed among all Chilean
populations. The possibility remains that
from Chile may be sufficiently diverged to constitute a new species from
originally described from a population collected in Oregon.
ABSTRACT
We present the first results of K2-OjOS, a collaborative project between professional and amateur astronomers primarily aimed to detect, characterize, and validate new extrasolar planets. ...For this work, 10 amateur astronomers looked for planetary signals by visually inspecting the 20 427 light curves of K2 campaign 18 (C18). They found 42 planet candidates, of which 18 are new detections and 24 had been detected in the overlapping C5 by previous works. We used archival photometric and spectroscopic observations, as well as new high-spatial resolution images in order to carry out a complete analysis of the candidates found, including a homogeneous characterization of the host stars, transit modelling, search for transit timing variations and statistical validation. As a result, we report four new planets (K2-355 b, K2-356 b, K2-357 b, and K2-358 b) and 14 planet candidates. Besides, we refine the transit ephemeris of the previously published planets and candidates by modelling C5, C16 (when available) and C18 photometric data jointly, largely improving the period and mid-transit time precision. Regarding individual systems, we highlight the new planet K2-356 b and candidate EPIC 211537087.02 being near a 2:1 period commensurability, the detection of significant TTVs in the bright star K2-184 (V = 10.35), the location of K2-103 b inside the habitable zone according to optimistic models, the detection of a new single transit in the known system K2-274, and the disposition reassignment of K2-120 b, which we consider as a planet candidate as the origin of the signal cannot be ascertained.
Tumor inflammation promotes angiogenesis, immunosuppression, and tumor growth, but the mechanisms controlling inflammatory cell recruitment to tumors are not well understood. We found that a range of ...chemoattractants activating G protein-coupled receptors (GPCRs), receptor tyrosine kinases (RTKs) and Toll-like/IL-1 receptors (TLR/IL1Rs) unexpectedly initiate tumor inflammation by activating the PI3-kinase isoform p110γ in Gr1+CD11b+ myeloid cells. Whereas GPCRs activate p110γ in a Ras/p101-dependent manner, RTKs and TLR/IL1Rs directly activate p110γ in a Ras/p87-dependent manner. Once activated, p110γ promotes inside-out activation of a single integrin, α4β1, causing myeloid cell invasion into tumors. Pharmacological or genetic blockade of p110γ suppressed inflammation, growth, and metastasis of implanted and spontaneous tumors, revealing an important therapeutic target in oncology.
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► Tumor inflammation depends on myeloid cell p110γ and integrin α4β1 ► RTKs, TLR/ILRs, and GPCRs directly activate p110γ to promote tumor inflammation ► RTKs and TLR/ILRs activate p110γ via p87 and Ras independently of GPCRs ► Inhibitors of p110γ block tumor inflammation, growth, and progression
This study describes the determination of Polynuclear aromatic hydrocarbons in water using a new modification for the commercial SPME-HPLC interface which incorporates a dynamic SPME-HPLC extraction ...and vibration in the desorption chamber during the extraction and desorption steps. Extraction and desorption parameters were investigated using fourteen PAHs of different volatilities (naphthalene, acenaphthalene, fluorene, phenanthrene, anthracene, fluoranthene, pyrene, benzo(a)anthracene, chrysene, benzo(b)fluoranthene, benzo(k)fluoranthene, benzo(a)pyrene, dibenzo(a,h)anthracene, benzo(g,h,i)perylene) as test compounds and fluorimetric detection. Regression coefficients close to 0.99 with RSD < 8.1% and detection limits in the range 0.004-0.59 µg/L were found. A method was applied to determine the above PAHs in water samples. The results were compared with the 550.1 EPA method at the 0.05 significance level.
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