Case report of a familial triple: a syndrome and review of the literature

RATIONALE: Triple-A syndrome, or Allgrove syndrome (AS), is a rare autosomal recessive disorder characterized by the alacrimia, achalasia, and adrenal insufficiency triad. Alacrimia usually starts at early infancy, while achalasia and adrenal insufficiency appear later during childhood or adulthood. Some patients may also present with the so-called Double-A syndrome (i.e., alacrimia and achalasia, or alacrimia and adrenal insufficiency); adrenal insufficiency usually represents a life-threatening event due to severe hypoglycemia. Many patients may also present other associated manifestations, such as neurological disorders. We describe, here, 2 sisters of non-consanguineous parents. PATIENT CONCERNS: An 8-year-old girl was admitted to the Pediatric Care Unit of Parma after an episode characterized by seizure with loss of consciousness and generalized hypertonia lasting a few minutes. Her sister, a 6-year-old girl, presented with recurrent episodes of vomiting and failure to thrive. DIAGNOSES: Both children were investigated by laboratory tests, esophagogastroduodenoscopy, and imaging. The first patient had the complete triad of AS (alacrimia, achalasia, adrenal insufficiency), while the second one presented only alacrimia and achalasia. Both resulted from a mutation in the achalasia, addisonianism, alacrimia syndrome gene. INTERVENTIONS: Both patients were treated with oral hydrocortisone for Addison disease, and with artificial tears in the first case. After many pneumatic endoscopic dilations and therapy with nifedipine, both patients underwent surgical Heller myotomy for achalasia. OUTCOMES: A rapid and favorable recovery to normal diet and with improvement of growth parameters was obtained. These cases are also compared with the literature data, reported in a brief review. LESSONS: AS is a rare multisystemic disorder. The longer diagnosis is delayed, the greater extent to which this syndrome may be life-threatening, mainly because of hypoglycemia due to adrenal insufficiency. In AS, the red-flag symptom of alacrimia should instigate investigation for achalasia, Addison disease, and achalasia, addisonianism, alacrimia syndrome gene mutation

Interferência da buva em áreas cultivadas com soja.

O aumento de incidência de buva nas áreas de cultivo da soja era previsto como consequência da adoção do plantio direto e das características inerentes a essa planta daninha, como o tamanho de suas sementes, a prolificidade, a dispersão pelo vento e a germinação na superfície do solo. A buva é uma planta nativa das Américas e sempre esteve presente na relação das principais espécies invasoras no Brasil. Nos últimos anos esta espécie passou a ser uma das principais infestantes das áreas de cultivo do sistema soja-milho-trigo na região sul do Brasil. O objetivo do trabalho foi analisar a interferência causada pelas plantas de buva na cultura da soja. Três experimentos foram conduzidos na safra 2008/2009 e um na safra 2009/2010, todos em áreas comercias escolhidas aleatoriamente e cujo manejo da área e do cultivo havia sido feito pelo produtor. A metodologia constou da determinação do rendimento de grãos em relação a diferentes níveis de infestação da buva. Paralelamente, foram coletadas amostras de soja provenientes do graneleiro de uma colheitadeira que operava na área, para a classificação dos grãos quanto ao teor de umidade e impureza. Os resultados indicam que a interferência da buva cultura da soja não se limita a reduções do rendimento de grãos, cujos valores em média apresentaram perdas que variaram de 1174Kg ha-' a 1469 Kg há-' nos maiores níveis de infestação, o que correspondeu a até 48% de perdas em relação a área sem infestação. Nos níveis mais baixos de infestação as perdas relativas de rendimento em comparação com as áreas sempre limpas variaram no diferentes experimentos de 2% a quase 5%. A presença da buva. interferiu também na classificação comercial da soja, chegando a aumentar a umidade dos grão em percentuais que variaram de 2 a 7% e a impureza de 1,8% a mais de 6% dependendo do nível de infestação

Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)

Background: Cyclic Vomiting Syndrome (CVS) is a rare functional gastrointestinal disorder, which has a considerable burden on quality of life of both children and their family. Aim of the study was to evaluate the diagnostic modalities and therapeutic approach to CVS among Italian tertiary care centers and the differences according to subspecialties, as well as to explore whether potential predictive factors associated with either a poor outcome or a response to a specific treatment. Methods: Cross-sectional multicenter web-based survey involving members of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP). Results: A total of 67 responses were received and analyzed. Most of the respondent units cared for less than 20 patients. More than half of the patients were referred after 3 to 5 episodes, and a quarter after 5 attacks. We report different diagnostic approaches among Italian clinicians, which was particularly evident when comparing gastroenterologists and neurologists. Moreover, our survey demonstrated a predilection of certain drugs during emetic phase according to specific clinic, which reflects the cultural background of physicians. Conclusion: In conclusion, our survey highlights poor consensus amongst clinicians in our country in the diagnosis and the management of children with CVS, raising the need for a national consensus guideline in order to standardize the practice

Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

Background: There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods: The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group - KDG) or KD-like (Kawacovid Group - KCG) disease between February 1st 2020, and May 31st 2020. Demographic, clinical, laboratory data, treatment information, and patients' outcome were collected in an online anonymized database (RedCAP®). Relationship between clinical presentation and SARS-CoV-2 infection was also taken into account. Moreover, clinical characteristics of KDG during SARS-CoV-2 epidemic (KDG-CoV2) were compared to Kawasaki Disease patients (KDG-Historical) seen in three different Italian tertiary pediatric hospitals (Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste; AOU Meyer, Florence; IRCCS Istituto Giannina Gaslini, Genoa) from January 1st 2000 to December 31st 2019. Chi square test or exact Fisher test and non-parametric Wilcoxon Mann-Whitney test were used to study differences between two groups. Results: One-hundred-forty-nine cases were enrolled, (96 KDG and 53 KCG). KCG children were significantly older and presented more frequently from gastrointestinal and respiratory involvement. Cardiac involvement was more common in KCG, with 60,4% of patients with myocarditis. 37,8% of patients among KCG presented hypotension/non-cardiogenic shock. Coronary artery abnormalities (CAA) were more common in the KDG. The risk of ICU admission were higher in KCG. Lymphopenia, higher CRP levels, elevated ferritin and troponin-T characterized KCG. KDG received more frequently immunoglobulins (IVIG) and acetylsalicylic acid (ASA) (81,3% vs 66%; p = 0.04 and 71,9% vs 43,4%; p = 0.001 respectively) as KCG more often received glucocorticoids (56,6% vs 14,6%; p < 0.0001). SARS-CoV-2 assay more often resulted positive in KCG than in KDG (75,5% vs 20%; p < 0.0001). Short-term follow data showed minor complications. Comparing KDG with a KD-Historical Italian cohort (598 patients), no statistical difference was found in terms of clinical manifestations and laboratory data. Conclusion: Our study suggests that SARS-CoV-2 infection might determine two distinct inflammatory diseases in children: KD and PIMS-TS. Older age at onset and clinical peculiarities like the occurrence of myocarditis characterize this multi-inflammatory syndrome. Our patients had an optimal response to treatments and a good outcome, with few complications and no deaths

The recovery of European freshwater biodiversity has come to a halt

Owing to a long history of anthropogenic pressures, freshwater ecosystems are among the most vulnerable to biodiversity loss. Mitigation measures, including wastewater treatment and hydromorphological restoration, have aimed to improve environmental quality and foster the recovery of freshwater biodiversity. Here, using 1,816 time series of freshwater invertebrate communities collected across 22 European countries between 1968 and 2020, we quantified temporal trends in taxonomic and functional diversity and their responses to environmental pressures and gradients. We observed overall increases in taxon richness (0.73% per year), functional richness (2.4% per year) and abundance (1.17% per year). However, these increases primarily occurred before the 2010s, and have since plateaued. Freshwater communities downstream of dams, urban areas and cropland were less likely to experience recovery. Communities at sites with faster rates of warming had fewer gains in taxon richness, functional richness and abundance. Although biodiversity gains in the 1990s and 2000s probably reflect the effectiveness of water-quality improvements and restoration projects, the decelerating trajectory in the 2010s suggests that the current measures offer diminishing returns. Given new and persistent pressures on freshwater ecosystems, including emerging pollutants, climate change and the spread of invasive species, we call for additional mitigation to revive the recovery of freshwater biodiversity

Multi-decadal improvements in the ecological quality of European rivers are not consistently reflected in biodiversity metrics

Humans impact terrestrial, marine and freshwater ecosystems, yet many broad-scale studies have found no systematic, negative biodiversity changes (for example, decreasing abundance or taxon richness). Here we show that mixed biodiversity responses may arise because community metrics show variable responses to anthropogenic impacts across broad spatial scales. We first quantified temporal trends in anthropogenic impacts for 1,365 riverine invertebrate communities from 23 European countries, based on similarity to least-impacted reference communities. Reference comparisons provide necessary, but often missing, baselines for evaluating whether communities are negatively impacted or have improved (less or more similar, respectively). We then determined whether changing impacts were consistently reflected in metrics of community abundance, taxon richness, evenness and composition. Invertebrate communities improved, that is, became more similar to reference conditions, from 1992 until the 2010s, after which improvements plateaued. Improvements were generally reflected by higher taxon richness, providing evidence that certain community metrics can broadly indicate anthropogenic impacts. However, richness responses were highly variable among sites, and we found no consistent responses in community abundance, evenness or composition. These findings suggest that, without sufficient data and careful metric selection, many common community metrics cannot reliably reflect anthropogenic impacts, helping explain the prevalence of mixed biodiversity trends.We thank J. England for assistance with calculating ecological quality and the biomonitoring indices in the UK. Funding for authors, data collection and processing was provided by the European Union Horizon 2020 project eLTER PLUS (grant number 871128). F.A. was supported by the Swiss National Science Foundation (grant numbers 310030_197410 and 31003A_173074) and the University of Zurich Research Priority Program Global Change and Biodiversity. J.B. and M.A.-C. were funded by the European Commission, under the L‘Instrument Financier pour l’Environnement (LIFE) Nature and Biodiversity program, as part of the project LIFE-DIVAQUA (LIFE18 NAT/ES/000121) and also by the project ‘WATERLANDS’ (PID2019-107085RB-I00) funded by the Ministerio de Ciencia, Innovación y Universidades (MCIN) and Agencia Estatal de Investigación (AEI; MCIN/AEI/10.13039/501100011033/ and by the European Regional Development Fund (ERDF) ‘A way of making Europe’. N.J.B. and V.P. were supported by the Lithuanian Environmental Protection Agency (https://aaa.lrv.lt/) who collected the data and were funded by the Lithuanian Research Council (project number S-PD-22-72). J.H. was supported by the Academy of Finland (grant number 331957). S.C.J. acknowledges funding by the Leibniz Competition project Freshwater Megafauna Futures and the German Federal Ministry of Education and Research (Bundesministerium für Bildung und Forschung or BMBF; 033W034A). A.L. acknowledges funding by the Spanish Ministry of Science and Innovation (PID2020-115830GB-100). P.P., M.P. and M.S. were supported by the Czech Science Foundation (GA23-05268S and P505-20-17305S) and thank the Czech Hydrometeorological Institute and the state enterprises Povodí for the data used to calculate ecological quality metrics from the Czech surface water monitoring program. H.T. was supported by the Estonian Research Council (number PRG1266) and by the Estonian national program ‘Humanitarian and natural science collections’. M.J.F. acknowledges the support of Fundação para a Ciência e Tecnologia, Portugal, through the projects UIDB/04292/2020 and UIDP/04292/2020 granted to the Marine and Environmental Sciences Centre, LA/P/0069/2020 granted to the Associate Laboratory Aquatic Research Network (ARNET), and a Call Estímulo ao Emprego Científico (CEEC) contract.Peer reviewe

The recovery of European freshwater biodiversity has come to a halt

Owing to a long history of anthropogenic pressures, freshwater ecosystems are among the most vulnerable to biodiversity loss1. Mitigation measures, including wastewater treatment and hydromorphological restoration, have aimed to improve environmental quality and foster the recovery of freshwater biodiversity2. Here, using 1,816 time series of freshwater invertebrate communities collected across 22 European countries between 1968 and 2020, we quantified temporal trends in taxonomic and functional diversity and their responses to environmental pressures and gradients. We observed overall increases in taxon richness (0.73% per year), functional richness (2.4% per year) and abundance (1.17% per year). However, these increases primarily occurred before the 2010s, and have since plateaued. Freshwater communities downstream of dams, urban areas and cropland were less likely to experience recovery. Communities at sites with faster rates of warming had fewer gains in taxon richness, functional richness and abundance. Although biodiversity gains in the 1990s and 2000s probably reflect the effectiveness of water-quality improvements and restoration projects, the decelerating trajectory in the 2010s suggests that the current measures offer diminishing returns. Given new and persistent pressures on freshwater ecosystems, including emerging pollutants, climate change and the spread of invasive species, we call for additional mitigation to revive the recovery of freshwater biodiversity.N. Kaffenberger helped with initial data compilation. Funding for authors and data collection and processing was provided by the EU Horizon 2020 project eLTER PLUS (grant agreement no. 871128); the German Federal Ministry of Education and Research (BMBF; 033W034A); the German Research Foundation (DFG FZT 118, 202548816); Czech Republic project no. P505-20-17305S; the Leibniz Competition (J45/2018, P74/2018); the Spanish Ministerio de Economía, Industria y Competitividad—Agencia Estatal de Investigación and the European Regional Development Fund (MECODISPER project CTM 2017-89295-P); Ramón y Cajal contracts and the project funded by the Spanish Ministry of Science and Innovation (RYC2019-027446-I, RYC2020-029829-I, PID2020-115830GB-100); the Danish Environment Agency; the Norwegian Environment Agency; SOMINCOR—Lundin mining & FCT—Fundação para a Ciência e Tecnologia, Portugal; the Swedish University of Agricultural Sciences; the Swiss National Science Foundation (grant PP00P3_179089); the EU LIFE programme (DIVAQUA project, LIFE18 NAT/ES/000121); the UK Natural Environment Research Council (GLiTRS project NE/V006886/1 and NE/R016429/1 as part of the UK-SCAPE programme); the Autonomous Province of Bolzano (Italy); and the Estonian Research Council (grant no. PRG1266), Estonian National Program ‘Humanitarian and natural science collections’. The Environment Agency of England, the Scottish Environmental Protection Agency and Natural Resources Wales provided publicly available data. We acknowledge the members of the Flanders Environment Agency for providing data. This article is a contribution of the Alliance for Freshwater Life (www.allianceforfreshwaterlife.org).Peer reviewe

Optimisation method to obtain marginal abatement cost-curve through EnergyPLAN software

The scope of energy system modelling is to support policy-makers in the definition of an energy strategy. Energy system models typically provide one single optimal solution. On the contrary, presenting the results of energy system modelling in the form of a set of optimal or sub-optimal alternatives improves the transparency towards the policy makers. A method to achieve this is marginal abatement cost curve. It estimates the relationship between potential reduction of CO2 emissions and relative costs. Model based methods to obtain marginal abatement cost curve lack of simultaneous high resolution in time and in sector coupling. Moreover, model based methods obtain smooth curves which can be transformed in step-wise only through a decomposition analysis. This latter shape is particularly important for providing the explicit technological detail in the graphical representation. The paper aims at developing a method to address these two issues in marginal abatement cost curves. The method, called EPLANoptMAC, is based on the EnergyPLAN software, developed by Aalborg university, and a hill climbing algorithm for expansion capacity optimisation. It is presented by applying it to the Italian energy system in 2030. The results show how in the initial phase of the decarbonisation process it is cheaper to generate overgeneration and curtailments from variable renewable energy sources than save these curtailments through balancing and storage solutions. This is driven by the low cost of generation of VRES and the high cost of balancing and storage solutions