PRICKLE1-related early onset epileptic encephalopathy

The PRICKLE1 (Prickle Planar Cell Polarity Protein 1-MIM 608500) gene is involved in different phases of human development. The related diseases include autosomal recessive progressive myoclonus epilepsy - ataxia syndrome, neural tube defects associated with heterozygous mutations, agenesis of corpus callosum, polymicrogyria, and autistic spectrum disorder. Reported here is a young boy with a new variant (NM_153026.2:c.820G>A, p.Ala274Thr) presenting with an early infantile epileptic encephalopathy with developmental arrest

Model predictive energy control of ventilation for underground stations

Smart building systems are opening up new markets, nevertheless the implementation of these novel technologies still lacks suitable and proven whole engineering solutions in complex buildings. This paper presents a detailed approach for the ventilation control of an underground space, as an example of application of the developed solution to a very harsh environment but also highly demanding in terms of energy consumption. The underground spaces are characterized by a particular thermal behavior, because of the continuous and huge thermal exchange they have with the outside, via the openings and the ground surrounding the majority of the building. The main objective of the developed methodology is to reduce energy consumption of ventilation control while maintaining acceptable comfort levels: succeeding in achieving this twofold goal in a real station and the generalization of the approach are the most relevant contributions of the paper. The developed solution is based on a Model-based Predictive Control algorithm used together with a proper monitoring platform. The model predictive control is based on a Bayesian environmental prediction model, which works in cooperation with a weather forecast web service, schedule-based predictions about trains and external fans and an occupancy detection system to appraise the real amount of people. The prediction model develops scenarios useful to allow the controller acting in advance in order to adapt the system to the current and future conditions of use, taking profit of the knowledge of the real ventilation demand. Finally, the proposed control architecture is applied to the Passeig de Gràcia metro station in Barcelona as a case study, validating the usefulness of the proposed approach and obtaining more than 30% of energy savings in the ventilation system, while maintaining the pre-existing comfort levels. The saving percentage values estimated by simulation are confirmed by the direct measures continuously taken on site through energy-meters

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype–phenotype discordance

Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations. We describe two families at the mildest end of the spectrum, differing in clinical presentation despite a common genotype at the BRAT1 locus. Two siblings displayed nonprogressive congenital ataxia and shrunken cerebellum on magnetic resonance imaging. A third unrelated patient showed normal neurodevelopment, adolescence-onset seizures, and ataxia, shrunken cerebellum, and ultrastructural abnormalities on skin biopsy, representing the mildest form of NEDCAS hitherto described. Exome sequencing identified the c.638dup and the novel c.1395G>A BRAT1 variants, the latter causing exon 10 skippings. The p53-MCL test revealed normal ATM kinase activity. Our findings broaden the allelic and clinical spectrum of BRAT1-related disease, which should be suspected in presence of nonprogressive cerebellar signs, even without a neurodevelopmental disorder

Whole mitochondrial genome sequencing provides new insights into the phylogeography of loggerhead turtles (Caretta caretta) in the Mediterranean Sea

Population structure and phylogeography of the loggerhead sea turtle (Caretta caretta) have so far been assessed mainly by mitochondrial DNA (mtDNA) single-gene sequencing studies. However, phylogenetic relationships amongst matrilines, genetic characterisation of rookeries and mixed-stock analyses have suffered from the limited resolution obtained by comparison of relatively short sequences such as from the mtDNA control region. Whole mitogenome sequencing can significantly improve population genetics, particularly in marine organisms showing female natal philopatry. Despite mitogenomics becoming increasingly common in biodiversity monitoring and conservation, only a few complete mitogenomes are available for C. caretta. In this study, we sequenced the complete mtDNA of 61 loggerhead turtles sampled between 2008 and 2021 along the Italian coastline and central Mediterranean Sea. We assigned complete mtDNA haplotypes to dead embryos and bycatch samples, and introduced a first nomenclature for loggerhead mitogenomes. Analysis of mtDNA diversity, Maximum Parsimony and Bayesian phylogenetic reconstruction allowed improved resolution of lineages with respect to studies reporting on partial mtDNA control region sequence comparisons, and we were able to further inform previous analyses on loggerhead ancestry based on control region haplogroups. Overall, whole mitogenome analysis has potential for considerable improvement of evolutionary history and phylogeographic investigations as well as mixed-stock surveys of loggerhead turtles

Investigation on Anthrax in Bangladesh during the Outbreaks of 2011 and Definition of the Epidemiological Correlations

In 2011, in Bangladesh, 11 anthrax outbreaks occurred in six districts of the country. Different types of samples were collected from May to September in the six districts where anthrax had occurred in order to detect and type Bacillus anthracis (B. anthracis) strains. Anthrax was detected in 46.6% of the samples analysed, in particular in soils, but also in bone samples, water, animal feed, and rumen ingesta of dead animals. Canonical single nucleotide polymorphisms (CanSNPs) analysis showed that all the isolates belonged to the major lineage A, sublineage A.Br.001/002 of China and Southeast Asia while the multi-locus variable number of tandem repeats (VNTRs) analysis (MLVA) with 15 VNTRs demonstrated the presence of five genotypes, of which two resulted to be new genotypes. The single nucleotide repeats (SNRs) analysis showed 13 SNR types; nevertheless, due to its higher discriminatory power, the presence of two isolates with different SNR-type polymorphisms was detected within two MLVA genotypes. This study assumes that soil is not the only reason for the spread of the disease in Bangladesh; contaminated feed and water can also play an important role in the epidemiology of anthrax. Possible explanations for these epidemiological relationships are discussed

Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance

Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations. We describe two families at the mildest end of the spectrum, differing in clinical presentation despite a common genotype at the BRAT1 locus. Two siblings displayed nonprogressive congenital ataxia and shrunken cerebellum on magnetic resonance imaging. A third unrelated patient showed normal neurodevelopment, adolescence-onset seizures, and ataxia, shrunken cerebellum, and ultrastructural abnormalities on skin biopsy, representing the mildest form of NEDCAS hitherto described. Exome sequencing identified the c.638dup and the novel c.1395G>A BRAT1 variants, the latter causing exon 10 skippings. The p53-MCL test revealed normal ATM kinase activity. Our findings broaden the allelic and clinical spectrum of BRAT1-related disease, which should be suspected in presence of nonprogressive cerebellar signs, even without a neurodevelopmental disorder

The transcription factor BCL11A defines distinct subsets of midbrain dopaminergic neurons. Tolve et al.

Summary: Midbrain dopaminergic (mDA) neurons are diverse in their projection targets, impact on behavior and susceptibility to neurodegeneration. Little is known about the molecular mechanisms establishing this diversity during development. We show that the transcription factor BCL11A is expressed in a subset of mDA neurons in the developing and adult murine brain and in a subpopulation of pluripotent stem cell-derived human mDA neurons. By combining intersectional labeling and viral-mediated tracing we demonstrate that Bcl11a-expressing mDA neurons form a highly specific subcircuit within the murine dopaminergic system. In the substantia nigra, the Bcl11a-expressing mDA subset is particularly vulnerable to neurodegeneration upon -synuclein overexpression or oxidative stress. Inactivation of Bcl11a in murine mDA neurons increases this susceptibility further, alters the distribution of mDA neurons and results in deficits in skilled motor behavior. In summary, BCL11A defines mDA subpopulations with highly distinctive characteristics and is required for establishing and maintaining their normal physiology. Data description: each file contains raw data related to the indicated Figure of the Tolve et al. manuscript. Raw data are uncropped image files (.tif format) and/or excel tables with the quantifications that were used to create the graphs in the respective Figure. Figure 2 is based on data from Fernandes, H. et al. Single-Cell Transcriptomics of Parkinson’s Disease Human In Vitro Models Reveals Dopamine Neuron- Specific Stress Responses. Cell Reports 108263 (2020). Thus, we refer interested researchers to this publication for detailed data sets

The "Euro-Mediterranean Forum on co-operation in Agriculture and Food Agro-Industry": The first CNR initiative in the framework of MEDA Regional Actions

The paper analyses the cooperation activities of the Italian National Research Council in the field of agriculture and food agro-industry. Particular attention is given to the cooperation between European Union and Mediterranean Partners in the framework of MEDA Regional Actions

Model predictive energy control of ventilation for underground stations

Smart building systems are opening up new markets, nevertheless the implementation of these novel technologies still lacks suitable and proven whole engineering solutions in complex buildings. This paper presents a detailed approach for the ventilation control of an underground space, as an example of application of the developed solution to a very harsh environment but also highly demanding in terms of energy consumption. The underground spaces are characterized by a particular thermal behavior, because of the continuous and huge thermal exchange they have with the outside, via the openings and the ground surrounding the majority of the building. The main objective of the developed methodology is to reduce energy consumption of ventilation control while maintaining acceptable comfort levels: succeeding in achieving this twofold goal in a real station and the generalization of the approach are the most relevant contributions of the paper. The developed solution is based on a Model-based Predictive Control algorithm used together with a proper monitoring platform. The model predictive control is based on a Bayesian environmental prediction model, which works in cooperation with a weather forecast web service, schedule-based predictions about trains and external fans and an occupancy detection system to appraise the real amount of people. The prediction model develops scenarios useful to allow the controller acting in advance in order to adapt the system to the current and future conditions of use, taking profit of the knowledge of the real ventilation demand. Finally, the proposed control architecture is applied to the Passeig de Gràcia metro station in Barcelona as a case study, validating the usefulness of the proposed approach and obtaining more than 30% of energy savings in the ventilation system, while maintaining the pre-existing comfort levels. The saving percentage values estimated by simulation are confirmed by the direct measures continuously taken on site through energy-meters.Peer ReviewedPostprint (published version