FDR, an easier way to NNLO calculations: a two-loop case study

In this paper we illustrate the simplifications produced by FDR in NNLO computations. We show with an explicit example that - due to its four-dimensionality - FDR does not require an order-by-order renormalization and that, unlike the one-loop case, FDR and dimensional regularization (DR) generate intermediate two-loop results which are no longer linked by a simple subtraction of the ultraviolet (UV) poles in epsilon. Our case study is the two-loop amplitude for H -> gamma gamma, mediated by an infinitely heavy top loop, in the presence of gluonic corrections. We use this to elucidate how gauge invariance is preserved with no need of introducing counterterms in the Lagrangian. In addition, we discuss a possible four-dimensional approach to the infrared (IR) problem compatible with the FDR treatment of the UV infinities.Comment: 34 pages, 8 figures, version enlarged to be published in EPJ

The γγ\gamma \gamma decay of the Higgs boson in FDR

We review the first complete calculation performed within the Four Dimensional Regularization scheme (FDR), the recently-proposed approach for addressing multi-loop calculations, which is simultaneously free of infinities and gauge-invariant in 4 dimensions. As a case study, the 1-loop-induced amplitude for the Higgs boson decay into two photons was calculated in arbitrary gauge. The result obtained, identical to that assessed with standard methods, stands as an explicit test of the gauge-invariance property of FDR. Moreover, the calculation provides an insight into the use of the technique, in particular in the presence of fermions.Comment: 4 pages, 3 figures, proceedings of LHCP2013 (Barcelona, 15/5/2013

Adherence to the Mediterranean Diet and Environmental Impact of the Diet on Primary School Children Living in Parma (Italy)

The key role of diet in both human health and environmental sustainability is well known. However, there is a lack of studies investigating the environmental impact of children’s dietary behavior. The aim of this observational study was to investigate the dietary environmental impact in a sample of primary school children living in Parma (Italy, n = 172, 8–10 years), in relation to their adherence to the Mediterranean diet (MD). Children completed a 3-day food record in both winter and spring. Dietary records were processed to obtain: (i) adherence to the MD and (ii) mean daily carbon and ecological footprints. Adherence to the MD was similar in winter and spring, with almost half of the participants showing a medium MD score. Carbon and ecological footprints were higher during winter, and the main dietary contributors were red and processed meat for both indexes. A small positive correlation was observed between adherence to the MD and total carbon and ecological footprints. This study provided the first analysis of the relationship between adherence to the MD and environmental impact of primary school children. Further research is needed to better investigate the environmental impact of primary school children’s diet and the possible relationship between the MD and environmental sustainability

The way to move beyond the numbers: the lesson learnt from the Italian Obstetric Surveillance System

Objective.To describe the Italian Obstetric Surveillance System (ItOSS) investigating maternal death through incident case reporting and confidential enquiries.Methods. All maternal deaths occurred in any public and private health facility in 8 Italian regions covering 73% of national births have been notified to the ItOSS. Every incident case is confidentially reviewed to assess quality of care and establish the cause and avoidability of the death.Findings. A total of 106 maternal deaths among 1.455.545 new-borns have been notified to the surveillance system in 2013-17. Haemorrhage, sepsis and hypertensive disorders of pregnancy are the leading causes of direct maternal deaths due to obstetric causes.Conclusions. A maternal mortality surveillance system, including incidence reporting and confidential enquiries along with a retrospective analysis of administrative data sources, emerged as the best option for case ascertainment and for promoting avoidable maternal deaths. 

Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9

Importance Mendelian forms of complex I deficiency are usually associated with fatal infantile encephalomyopathy. Application of “MitoExome” sequencing (deep sequencing of the entire mitochondrial genome and the coding exons of >1000 nuclear genes encoding the mitochondrial proteome) allowed us to reveal an unusual clinical variant of complex I deficiency due to a novel homozygous mutation in ACAD9. The patient had an infantile-onset but slowly progressive encephalomyopathy and responded favorably to riboflavin therapy. Observation A 13-year-old boy had exercise intolerance, weakness, and mild psychomotor delay. Muscle histochemistry showed mitochondrial proliferation, and biochemical analysis revealed severe complex I deficiency (15% of normal). The level of complex I holoprotein was reduced as determined by use of Western blot both in muscle (54%) and in fibroblasts (57%). Conclusions and Relevance The clinical presentation of complex I deficiency due ACAD9 mutations spans from fatal infantile encephalocardiomyopathy to mild encephalomyopathy. Our data support the notion that ACAD9 functions as a complex I assembly protein. ACAD9 is a flavin adenine dinucleotide–containing flavoprotein, and treatment with riboflavin is advisable

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

NUBPL (Nucleotide-binding protein like) protein encodes a member of the Mrp/NBP35 ATP-binding proteins family, deemed to be involved in mammalian complex I (CI) assembly process. Exome sequencing of a patient presenting with infantile-onset hepatopathy, renal tubular acidosis, developmental delay, short stature, leukoencephalopathy with minimal cerebellar involvement and multiple OXPHOS deficiencies revealed the presence of two novel pathogenic compound heterozygous variants in NUBPL (p.Phe242Leu/p.Leu104Pro). We investigated patient's and control immortalised fibroblasts and demonstrated that both the peripheral and the membrane arms of complex I are undetectable in mutant NUBPL cells, resulting in virtually absent CI holocomplex and loss of enzyme activity. In addition, complex III stability was moderately affected as well. Lentiviral-mediated expression of the wild-type NUBPL cDNA rescued both CI and CIII assembly defects, confirming the pathogenicity of the variants. In conclusion, this is the first report describing a complex multisystemic disorder due to NUBPL defect. In addition, we confirmed the role of NUBPL in Complex I assembly associated with secondary effect on Complex III stability and we demonstrated a defect of mtDNA-related translation which suggests a potential additional role of NUBPL in mtDNA expression

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease due to mutations in the thymidine phosphorylase (TP) gene. TP enzyme catalyzes the reversible phosphorolysis of thymidine to thymine and 2-deoxy-D-ribose 1-phosphate. We present evidence that thymidine metabolism is altered in MNGIE. TP activities in buffy coats were reduced drastically in all 27 MNGIE patients compared with 19 controls. All MNGIE patients had much higher plasma levels of thymidine than normal individuals and asymptomatic TP mutation carriers. In two patients, the renal clearance of thymidine was approximately 20% that of creatinine, and because hemodialysis demonstrated that thymidine is ultrafiltratable, most of the filtered thymidine is likely to be reabsorbed by the kidney. In vitro, fibroblasts from controls catabolized thymidine in medium; by contrast, MNGIE fibroblasts released thymidine. In MNGIE, severe impairment of TP enzyme activity leads to increased plasma thymidine. In patients who are suspected of having MNGIE, determination of TP activity in buffy coats and thymidine levels in plasma are diagnostic. We hypothesize that excess thymidine alters mitochondrial nucleoside and nucleotide pools leading to impaired mitochondrial DNA replication, repair, or both. Therapies to reduce thymidine levels may be beneficial to MNGIE patients

Taxonomical and functional composition of strawberry microbiome is genotype-dependent

Introduction: Specific microbial communities are associated to host plants, influencing their phenotype and fitness. Despite the rising interest in plant microbiome, the role of microbial communities associated with perennial fruit plants remains overlooked. Objectives: This work provides the first comprehensive description of the taxonomical and functional bacterial and fungal microbiota of below- and above-ground organs of three commercially important strawberry genotypes under cultural conditions. Methods: Strawberry-associated fungal and bacterial microbiomes were characterised by NextGeneration Sequencing and the potential functions expressed by the bacterial microbiome were analysed by both in silico and in vitro characterisation of plant growth-promoting abilities of native bacteria. Additionally, the association between the strawberry microbiome, plant disease tolerance, plant mineral nutrient content, and fruit quality was investigated. Results: Results showed that the strawberry core microbiome included 24 bacteria and 15 fungal operational taxonomic units (OTUs). However, plant organ and genotype had a significant role in determining the taxonomical and functional composition of microbial communities. Interestingly, the cultivar with the highest tolerance against powdery mildew and leaf spot and the highest fruit productivity was the only one able to ubiquitously recruit the beneficial bacterium, Pseudomonas fluorescens, and to establish a mutualistic symbiosis with the arbuscular mycorrhiza Rhizophagus irregularis. Conclusion: This work sheds light on the interaction of cultivated strawberry genotypes with a variety of microbes and highlights the importance of their applications to increase the sustainability of fruit crop productio