Particle size and potential toxic element speciation in municipal solid waste incineration (Mswi) bottom ash

The speciation of potentially toxic elements (PTE) in bottom ashes from municipal solid waste incineration (MSWI) and their relationship with grain size is investigated. The proposed enrichment of several potential toxic elements in lower sized grains is discussed, comparing the literature and new data on Parma’s waste incinerator. Results from X-ray fluorescence spectrometry (XRF), SEM-EDS, and XRD analyses on different grain size show (1) a positive Si-trend, correlated with grain size and few lithophile elements, such as Zr and Rb. In Parma, Al, K, Mg, and Fe also correlate with Si for the portion below 2 mm; (2) a Ca-trend, with a strong negative correlation with Si and a positive correlation with loss on ignition (LOI), S, Cl, Ti, Zn, Pb, and Sn. Mineralogical composition shows a little change in grain size, as in previous investigations, but with substantial differences in amorphous content. SEM-EDS analysis shows that the amorphous portion is highly heterogeneous, with portions coming from melting during incineration, residual glass, and unburnt loss on ignition (LOI). The above results show that PTE elements are either present as metals (such as Cu and Ni, or Zn, Pb and Sn) in carbonate, sulfate, and amorphous residual LOI portions

Viriot: A cloud of things that offers iot infrastructures as a service

Many cloud providers offer IoT services that simplify the collection and processing of IoT information. However, the IoT infrastructure composed of sensors and actuators that produces this information remains outside the cloud; therefore, application developers must install, connect and manage the cloud. This requirement can be a market barrier, especially for small/medium software companies that cannot afford the infrastructural costs associated with it and would only prefer to focus on IoT application developments. Motivated by the wish to eliminate this barrier, this paper proposes a Cloud of Things platform, called VirIoT, which fully brings the Infrastructure as a service model typical of cloud computing to the world of Internet of Things. VirIoT provides users with virtual IoT infrastructures (Virtual Silos) composed of virtual things, with which users can interact through dedicated and standardized broker servers in which the technology can be chosen among those offered by the platform, such as oneM2M, NGSI and NGSI-LD. VirIoT allows developers to focus their efforts exclusively on IoT applications without worrying about infrastructure management and allows cloud providers to expand their IoT services portfolio. VirIoT uses external things and cloud/edge computing resources to deliver the IoT virtualization services. Its open-source architecture is microservice-based and runs on top of a distributed Kubernetes platform with nodes in central and edge data centers. The architecture is scalable, efficient and able to support the continuous integration of heterogeneous things and IoT standards, taking care of interoperability issues. Using a VirIoT deployment spanning data centers in Europe and Japan, we conducted a performance evaluation with a two-fold objective: showing the efficiency and scalability of the architecture; and leveraging VirIoT’s ability to integrate different IoT standards in order to make a fair comparison of some open-source IoT Broker implementations, namely Mobius for oneM2M, Orion for NGSIv2, Orion-LD and Scorpio for NGSI-LD

Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment

Estudos realizados em pacientes portadores de deleções parciais dos cromossomos sexuais permitiram a caracterização do SHOX, gene localizado na região pseudoautossômica no braço curto dos cromossomos sexuais, fundamental na determinação da altura normal. A perda de uma cópia deste gene na síndrome de Turner (ST) explica dois terços da baixa estatura observada nesta síndrome. A haploinsuficiência do SHOX é detectada em 77% dos pacientes com discondrosteose de Leri-Weill, uma forma comum de displasia esquelética de herança autossômica dominante e em 3% das crianças com baixa estatura idiopática (BEI), tornando os defeitos neste gene a principal causa monogênica de baixa estatura. A medida da altura sentada em relação à altura total (Z da AS/AT para idade e sexo) é uma forma simples de identificar a desproporção corpórea e, associada ao exame cuidadoso do paciente e de outros membros da família, auxilia na seleção de pacientes para o estudo molecular do SHOX. O uso de hormônio de crescimento (GH) está bem estabelecido na ST e em razão da causa comum da baixa estatura com o de crianças com defeitos isolados do SHOX o tratamento destes pacientes com GH é também proposto. Neste artigo será revisado os aspectos clínicos, moleculares e terapêuticos da haploinsuficiência do SHOX.Studies involving patients with short stature and partial deletion of sex chromosomes identified SHOX gene in the pseudoautosomal region of the X and Y chromosomes. SHOX haploinsufficiency is an important cause of short stature in a diversity of clinical conditions. It explains 2/3 of short stature observed in Turner syndrome (TS) patients. Heterozygous mutations in SHOX are observed in 77% of patients with Leri-Weill dyschondrosteosis, a common dominant inherited skeletal dysplasia and in 3% of children with idiopathic short stature, indicating that SHOX defects are the most frequent monogenetic cause of short stature. The sitting height/height ratio (SH/H) standard deviation score is a simple way to assess body proportions and together with a careful exam of other family members, effectively selected a group of patients that presented a high frequency of SHOX mutations. Growth hormone treatment of short stature due to TS is well established and considering the common etiology of short stature in patients with isolated defects of SHOX gene, this treatment is also proposed for these patients. Here, we review clinical, molecular and therapeutic aspects of SHOX haploinsufficiency.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq

Evaluation of SHOX defects in the era of next‐generation sequencing

Short stature homeobox (SHOX) haploinsufficiency is a frequent cause of short stature. Despite advances in sequencing technologies, the identification of SHOX mutations continues to be performed using standard methods, including multiplex ligation‐dependent probe amplification (MLPA) followed by Sanger sequencing. We designed a targeted panel of genes associated with growth impairment, including SHOX genomic and enhancer regions, to improve the resolution of next‐generation sequencing for SHOX analysis. We used two software packages, CONTRA and Nexus Copy Number, in addition to visual analysis to investigate the presence of copy number variants (CNVs). We evaluated 15 patients with previously known SHOX defects, including point mutations, deletions and a duplication, and 77 patients with idiopathic short stature (ISS). The panel was able to confirm all known defects in the validation analysis. During the prospective evaluation, we identified two new partial SHOX deletions (one detected only by visual analysis), including an intragenic deletion not detected by MLPA. Additionally, we were able to determine the breakpoints in four cases. Our results show that the designed panel can be used for the molecular investigation of patients with ISS, and it may even detect CNVs in SHOX and its enhancers, which may be present in a significant fraction of patients.Copy number variants analyses and Sanger sequencing of breakpoint regions in Case 11, which has a heterozygous deletions involving exons 4, 5, and 6a of short stature homeobox (SHOX).Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/151254/1/cge13587.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/151254/2/CGE_13587-sup-0001-Supinfo.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/151254/3/cge13587_am.pd

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital

Objectives: To analyze the efficiency of a multigenic targeted massively parallel sequencing panel related to endocrine disorders for molecular diagnosis of patients assisted in a tertiary hospital involved in the training of medical faculty. Material and methods: Retrospective analysis of the clinical diagnosis and genotype obtained from 272 patients in the Endocrine unit of a tertiary hospital was performed using a custom panel designed with 653 genes, most of them already associated with the phenotype (OMIM) and some candidate genes that englobes developmental, metabolic and adrenal diseases. The enriched DNA libraries were sequenced in NextSeq 500. Variants found were then classified according to ACMG/AMP criteria, with Varsome and InterVar. Results: Three runs were performed; the mean coverage depth of the targeted regions in panel sequencing data was 249×, with at least 96.3% of the sequenced bases being covered more than 20-fold. The authors identified 66 LP/P variants (24%) and 27 VUS (10%). Considering the solved cases, 49 have developmental diseases, 12 have metabolic and 5 have adrenal diseases. Conclusion: The application of a multigenic panel aids the training of medical faculty in an academic hospital by showing the picture of the molecular pathways behind each disorder. This may be particularly helpful in developmental disease cases. A precise genetic etiology provides an improvement in understanding the disease, guides decisions about prevention or treatment, and allows genetic counseling

Novel SUZ12 mutations in Weaver‐like syndrome

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/146320/1/cge13415_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146320/2/cge13415-sup-0001-AppendixS1.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/146320/3/cge13415.pd

The prevalence of diabetes and stress hyperglycemia in the acute myocardial infarction patients

OBJETIVOS: Determinar a prevalência do diabetes melito (DM) e da hiperglicemia de estresse (HE) em pacientes com infarto agudo do miocárdio (IAM) admitidos em unidade de emergência cardiológica. MÉTODOS: Análise retrospectiva de 2.262 pacientes com IAM, avaliando, além da prevalência de diabetes referido, o diagnosticado e a hiperglicemia de estresse. RESULTADOS: Apesar de referido em 12,1% dos pacientes (H: 10,7%, M: 15,8%), o DM ocorria efetivamente em 24,8% (H: 22,9%, M: 29,7%) e a HE em 13,6% (H: 14,3%, M: 11,7%) dos indivíduos dessa população. Portanto, alterações glicêmicas ocorreram em 37,4% dos indivíduos com IAM (H: 37,2%, M: 41,4%). Nos pacientes com DM, observou-se maior precocidade etária do IAM, maior prevalência de óbitos (DM: 20,7%, ND:13,8%, HE: 13,4%) e de procedimentos cirúrgicos (ND: 33,8%, HE: 18,0%, DM: 21,7%). CONCLUSÃO: A elevada prevalência de DM e hiperglicemia de estresse observada em nosso estudo indica que as alterações glicêmicas constituem um dos mais importantes fatores de risco para o IAM.OBJECTIVES: To evaluate in our population the real prevalence of diabetes (DM) and stress hyperglycemia (HE) in patients with myocardial infarction (IAM) admitted in a cardiologic emergency unit. METHODS: A retrospective analysis of 2262 patients with AMI evaluating the prevalence of DM (referred and diagnosed) and stress hyperglycemia. RESULTS: Besides 12,1% of subjects were previously referred to be diabetic (men: 10.7% and women: 15.8%), diabetes was effectively diagnosed in 24,8% (M: 22,9%, W: 29,7%) and stress hyperglycemia in 13,6% HE of the patients (M: 14,3%, W: 11,7%) indicating that glycemic alterations were effectively observed in 37.2.% of the patients with IAM (M: 37,2%, W: 41,4%). In DM subjects IAM events occurred earlier, total intra-hospital mortality was higher (DM: 20.7%, ND: 13,8%, HE: 13,4%) and less surgical procedures were performed (ND 33.8%, DM: 21.7%, HE: 18.0%). CONCLUSION: The elevated DM and stress hyperglycemia prevalence observed in our study indicates that glycemic alterations is one of the most important risk factors for IAM

Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

The short-rib polydactyly (SRP) syndromes are a heterogenous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C. Compound heterozygosity for one missense and one null mutation was identified in two additional nonconsanguineous SRP families. Cultured chondrocytes from affected individuals showed morphologically abnormal, shortened cilia. In addition, the chondrocytes showed abnormal cytoskeletal microtubule architecture, implicating an altered microtubule network as part of the disease process. These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth

Maroon Archaeology Beyond the Americas: A View From Kenya

Archaeological research on Maroons—that is, runaway slaves—has been largely confined to the Americas. This essay advocates a more global approach. It specifically uses two runaway slave communities in 19th-century coastal Kenya to rethink prominent interpretive themes in the field, including “Africanisms,” Maroons’ connections to indigenous groups, and Maroon group cohesion and identity. This article’s analysis demonstrates that the comparisons enabled by a more globalized perspective benefit the field. Instead of eliding historical and cultural context, these comparisons support the development of more localized and historically specific understandings of individual runaway slave communities both in Kenya and throughout the New World