Summary
A 17‐year‐old male presented with a large sebaceous naevus (SN) comprising part of his right face and scalp and a speckled lentiginous naevus (SLN) on his left trunk, hip, neck and scalp with ...a checkerboard pattern. His right oral hemimucosa showed extensive papillomatous lesions, which were contiguous with the upper‐lip SN lesions. He also showed extracutaneous manifestations including cardiac, musculoskeletal and ocular alterations. Internally, he had developed two primary rhabdomyosarcomas. DNA samples of the SN, SLN, oral papillomatous hyperplasia and both rhabdomyosarcomas were analysed by Sanger sequencing. An HRAS c.37G>C mutation was detected in all of them. Skin and blood DNA were wild‐type. Phacomatosis pigmentokeratotica (PPK) is characterized by the association of an SN with a papular naevus spilus and extracutaneous manifestations. Until recently, the aetiopathogenetic hypothesis of didymosis was accepted. However, in 2013 Groesser et al. proved the existence of an activating HRAS mutation as the cause of this syndrome. A higher incidence of cancer has been observed in germline RASopathies. Furthermore, up to 30% of human cancers show dysregulation of the Ras–Raf–MEK–ERK pathways. In our patient, an HRAS mosaic mutation explains not only the cutaneous but also the extracutaneous manifestations. To our knowledge this is the first described case of PPK in which the existence of an HRAS mosaic mutation is the confirmed cause of rhabdomyosarcoma. Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma. Mosaicisms could be underdiagnosed causes of childhood tumours. As dermatologists we stand in a privileged position of being able to detect these alterations.
What's already known about this topic?
Phacomatosis pigmentokeratotica (PPK) is a neurocutaneous congenital disorder that has classically been included among the epidermal naevus syndromes.
Recently it has been recognized as a mosaic RASopathy, caused by a postzygotic mutation in the Ras–Raf–MEK–ERK pathways.
So far, pathogenic mutations have been described in 11 cases. An HRAS mutation occurred in eight of them, a BRAF mutation in two and a KRAS mutation in another.
What does this study add?
We report a new case of PPK with florid cutaneous, extracutaneous and neoplastic manifestations.
To our knowledge this is the first report of an HRAS mutation causing rhabdomyosarcoma in PPK.
Furthermore, to our knowledge an HRAS c.37G>C substitution has never been related to rhabdomyosarcoma, either in this syndrome or in isolated cases.
Linked Comment: Siegel et al. Br J Dermatol 2018; 179:1031–1032.
•Anaerobic co-digestion of two-phase olive-mill waste and cattle manure was studied.•Four total solids contents were studied for a 75:25 mixture of both wastes.•Methane yield and organic matter ...removal were lower as total solids content increased.•The best yield was obtained with the lower total solids content (10%).•57,5% volatile solids removal and 82.5 LCH4/kgVS were reached working at 10% TS.
The solids content is a key parameter in the development of anaerobic digestion as it can determine the proper operation and performance of the process. The influence of the total solids content on the mesophilic anaerobic co-digestion of two-phase olive-mill waste (2POMW) and cattle manure (CM) was investigated. Four different total solids (TS) concentrations, in a 75:25 mixture of 2POMW:CM, were studied in batch reactors of 2 L capacity: 10%TS (R10), 15%TS (R15), 20%TS (R20) and 28.6%TS (Reactor non-diluted). The methane yields and the organic matter removal efficiency for the reactor with 10 and 15% TS were significantly higher than in the reactors with a higher solids content (R20 and Rnd). The hydrolytic and acidogenic phases were not adversely affected by the total solid content since the concentration of volatile fatty acids (VFAs) increased as TS percentage increased. However, a clear effect on the methanogenic phase was observed, which led to the accumulation of VFAs in the reactors R15, R20 and Rnd. Experimental results have shown that the best conditions correspond to the reactor containing 10% TS. The volatile solids and VFA removal in reactor R10 were 57.5% and 93.7% respectively. Moreover, the methane yield and the specific methane production were 35.80 LCH4/kgVSadded and 82.51 LCH4/kgVSremoved respectively.
A rapid, simple, and sensitive multiresidue method for analysis of 53 pesticides in fruit and vegetables by ultra-performance liquid chromatography (UPLC) coupled to triple-quadrupole tandem mass ...spectrometry (MS-MS) has been developed and validated. Prior to analysis, analytes were extracted by use of buffered QuEChERS (quick, easy, cheap, effective, rugged, safe) methodology without further cleanup for non fatty matrices. Chromatographic conditions were optimised in order to achieve a fast separation in multiple reaction monitoring (MRM) mode. Indeed, more than 50 pesticides can be separated in less then 10 min. Four common representative matrices (cucumber, orange, strawberry, and olive) were selected to investigate the effect of different matrices on recovery and precision. Mean recoveries ranged from 70 to 109% with relative standard deviations lower than 20% for all the pesticides assayed in the four selected matrices. The method has been applied to the analysis of 200 vegetable samples, and imidacloprid was the pesticide most frequently found, with concentrations ranging from 0.01 to 1.00 mg kg-¹. This methodology combines the advantages of both QuEChERS and UPLC-MS-MS producing a very rapid, sensitive, and reliable procedure which can be applied in routine analytical laboratories.
Nonylphenol (NP) is an anthropogenic pollutant frequently found in sewage sludge due to the insufficient degrading effectiveness of conventional WWTPs and has attracted attention as an endocrine ...disruptor. The aim of this study was to isolate specific NP-degrading bacteria from sewage sludge to be used in the degradation of this contaminant through bioaugmentation processes in aqueous solution and sewage sludge. Up to eight different bacterial strains were isolated, six of them not previously described as NP degraders. Bacillus safensis CN12 presented the best NP degradation in solution, and glucose used as an external carbon source increased its effect, reaching DT50 degradation values (time to decline to half the initial concentration of the pollutant) of only 0.9 days and a complete degradation in <7 days. Four NP metabolites were identified throughout the biodegradation process, showing higher toxicity than the parent contaminant. In sewage sludge suspensions, the endogenous microbiota was capable of partially degrading NP, but a part remained adsorbed as bound residue. Bioaugmentation was used for the first time to remove NP from sewage sludge to obtain more environmentally friendly biosolids. However, B. safensis CN12 was not able to degrade NP due to its high adsorption on sludge, but the use of a cyclodextrin (HPBCD) as availability enhancer allowed us to extract NP and degrade it in solution. The addition of glucose as an external carbon source gave the best results since the metabolism of the sludge microbiota was activated, and HPBCD was able to remove NP from sewage sludge to the solution to be degraded by B. safensis CN12. These results indicate that B. safensis CN12 can be used to degrade NP in water and sewage sludge, but the method must be improved using consortia of B. safensis CN12 with other bacterial strains able to degrade the toxic metabolites produced.
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•6 bacterial strains from sludge not previously reported as nonylphenol (NP)-degrader.•B. safensis a powerful novel NP-degrader bacterial species in solution•Toxic metabolites from NP degradation by B. safensis. Toxicity studies are necessary.•Bioaugmentation with bacteria used for the first time to degrade NP in sewage sludge.•Effectivity of cyclodextrin to extract NP from sludge to be degraded by B. safensis.
Abstract The aim of this study was to identify key points and time intervals in the patient pathway to the diagnosis of oral cancer, from the detection of a bodily change to the start of treatment. A ...systematic search of three databases was performed by two researchers independently. Articles reporting original data on patients with symptomatic primary oral or oropharyngeal squamous cell carcinoma that was pathologically confirmed were included. These articles had to include an outcome variable of ‘diagnostic delay’, ‘time interval’, or ‘waiting time to diagnosis’, or report time intervals from first symptom to treatment. Furthermore, the outcome variable had to have a clearly defined start point and end point, with the time measurement presented as a continuous or categorical variable. A total of 1175 reports were identified; 28 articles on oral cancer studies and 13 on oral and oropharyngeal cancer studies were finally included. These papers showed poor quality in terms of questionnaire validation, acknowledgement of biases influencing time-point measurements, and strategies for verification of patient self-reported data. They also showed great heterogeneity. The review findings allowed the definition of key points and time intervals within the Aarhus framework that may better suit the features of the diagnostic process of this neoplasm, particularly when assessing the impact of waiting time to diagnosis.
Phase space deformations in SUSY cosmology López-Picón, J.L.; Sabido, M.; Yee-Romero, C.
Physics letters. B,
February 2024, 2024-02-00, 2024-02-01, Volume:
849
Journal Article
Peer reviewed
Open access
In this paper we propose a SUSY generalization for deformed phase-space cosmology. In particular, scalar field and phantom cosmology are studied. We construct the supercharges of the models and the ...SUSY Wheeler-DeWitt equation. We also construct and derive the classical dynamics using the WKB approximation.
Graphene, a new 2D material, is gaining a lot of attention because of its remarkable mechanical, electrical, chemical, thermal, and optical properties. Graphene synthesis procedures can follow two ...different strategies named as “bottom up” and “top down”. In the first one, a carbonaceous carbon material is used to deposite graphene over a substrate and, in the second one, graphite is used as raw material to obtain graphene using different methods. Inside the top down strategy, exfoliation of carbon nanomaterials, both graphite and graphene oxide, is considered as a cheap and simple method to synthesize graphene. Graphite exfoliation can be conducted with both aqueous and organic methods. On the other hand, different alternatives to produce graphene using graphene oxide as the raw material can be followed, which are based on either the presonication of graphite, as a previous step for manufacturing graphene, or the sonication of the synthesized graphite oxide, leading to graphene oxide.
The pathophysiology of essential tremor (ET), the most common movement disorder, is not fully understood. We investigated which factors determine the variability in the phase difference between ...neural drives to antagonist muscles, a long-standing observation yet unexplained. We used a computational model to simulate the effects of different levels of voluntary and tremulous synaptic input to antagonistic motoneuron pools on the tremor. We compared these simulations to data from 11 human ET patients. In both analyses, the neural drive to muscle was represented as the pooled spike trains of several motor units, which provides an accurate representation of the common synaptic input to motoneurons. The simulations showed that, for each voluntary input level, the phase difference between neural drives to antagonist muscles is determined by the relative strength of the supraspinal tremor input to the motoneuron pools. In addition, when the supraspinal tremor input to one muscle was weak or absent, Ia afferents provided significant common tremor input due to passive stretch. The simulations predicted that without a voluntary drive (rest tremor) the neural drives would be more likely in phase, while a concurrent voluntary input (postural tremor) would lead more frequently to an out-of-phase pattern. The experimental results matched these predictions, showing a significant change in phase difference between postural and rest tremor. They also indicated that the common tremor input is always shared by the antagonistic motoneuron pools, in agreement with the simulations. Our results highlight that the interplay between supraspinal input and spinal afferents is relevant for tremor generation.
Gut microbiota research is an emerging field that improves our understanding of the ecological and functional dynamics of gut environments. The honey bee gut microbiota is a highly rewarding ...community to study, as honey bees are critical pollinators of many crops for human consumption and produce valuable commodities such as honey and wax. Most significantly, unique characteristics of the Apis mellifera gut habitat make it a valuable model system. This review discusses methods and pipelines used in the study of the gut microbiota of Ap. mellifera and closely related species for four main purposes: identifying microbiota taxonomy, characterizing microbiota genomes (microbiome), characterizing microbiota–microbiota interactions and identifying functions of the microbial community in the gut. The purpose of this contribution is to increase understanding of honey bee gut microbiota, to facilitate bee microbiota and microbiome research in general and to aid design of future experiments in this growing field.
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