Build Our Nation international project: an innovative educational model for systems thinking in design.

Ethical decision-making models grounded in ethical frameworks comprehend elements of systems thinking such as holistic language and value-guided systems. This paper proposes an innovative educational model for systems thinking in architectural design. Academic members, students, and future users work together as an international architectural design studio team to improve specific real-world living conditions. The model of Build Our Nation aims at reconsidering the whole design process by focusing on rethinking design and rethinking construction. In response to the current global crisis in designing and building, the paper argues that more than a responsible behaviour has become necessary. Starting from the educational stage an ethic of resilience should be pursued and that represents the core of the model proposed by Build Our Nation

Upgrades of beam diagnostics in support of emittance-exchange experiments at the Fermilab A0 photoinjector

The possibility of using electron beam phase space manipulations to support a free-electron laser accelerator design optimization has motivated our research. An on-going program demonstrating the exchange of transverse horizontal and longitudinal emittances at the Fermilab A0 photoinjector has benefited recently from the upgrade of several of the key diagnostics stations. Accurate measurements of these properties upstream and downstream of the exchanger beamline are needed. Improvements in the screen resolution term and reduced impact of the optical system's depth-of-focus by using YAG:Ce single crystals normal to the beam direction will be described. The requirement to measure small energy spreads (<10 keV) in the spectrometer and the exchange process which resulted in bunch lengths less than 500 fs led to other diagnostics performance adjustments and upgrades as well. A longitudinal to transverse exchange example is also reported.Comment: 16 p

Gonosomal mosaicism for a novel col5a1 pathogenic variant in classic ehlers-danlos syndrome

(1) Background: Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by joint hypermobility and skin hyperextensibility with atrophic scarring. Many cEDS individuals carry variants in either the COL5A1 or COL5A2 genes. Mosaicism is relatively common in heritable connective tissue disorders but is rare in EDS. In cEDS, a single example of presumed gonosomal mosaicism for a COL5A1 variant has been published to date. (2) Methods: An 8-year-old girl with cEDS was analyzed by next-generation sequencing (NGS). Segregation was performed by Sanger sequencing in her unaffected parents. In the father, the mosaicism of the variant was further analyzed by targeted NGS and droplet digital PCR (ddPCR) in the blood and by Sanger sequencing in other tissues. (3) Results: The NGS analysis revealed the novel germline heterozygous COL5A1 c.1369G&gt;T, p.(Glu457*) variant in the proband. Sanger chromatogram of the father’s blood specimen suggested the presence of a low-level mosaicism for the COL5A1 variant, which was confirmed by NGS and estimated to be 4.8% by ddPCR. The mosaicism was also confirmed by Sanger sequencing in the father’s saliva, hair bulbs and nails. (4) Conclusions: We described the second case of cEDS caused by paternal gonosomal mosaicism in COL5A1. Parental mosaicism could be an issue in cEDS and, therefore, considered for appropriate genetic counseling

The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results

BACKGROUND: The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance and patient's outcomes. The registry has a modular design that allows to integrate comprehensive disease-specific registries as extensions to the core database. The diagnosis (Orphacode) and diagnostic information (clinical, imaging, histopathological, biochemical, immunological and genetic) are recorded. Anthropometric, kidney function, and disease-specific management and outcome items informing a set of 61 key performance indicators (KPIs) are obtained annually. Data quality is ensured by automated plausibility checks upon data entry and regular offline database checks prompting queries. Centre KPI statistics and benchmarking are calculated automatically. RESULTS: Within the first 24 months since its launch, 7607 patients were enrolled to the registry at 45 pediatric and 12 specialized adult nephrology units from 21 countries. A kidney disease diagnosis had been established in 97.1% of these patients at time of enrolment. While 199 individual disease entities were reported by Orphacode, 50% of the cohort could be classified with 11, 80% with 43 and 95% with 92 codes. Two kidney diagnoses were assigned in 6.5% of patients; 5.9% suffered from syndromic disease. Whereas glomerulopathies (54.8%) and ciliopathies including autosomal dominant polycystic kidney disease (ADPKD) (31.5%) were the predominant disease groups among adults, the pediatric disease spectrum encompassed congenital anomalies of the kidney and urinary tract (CAKUT) (33.7%), glomerulopathies (30.7%), ciliopathies (14.0%), tubulopathies (9.2%), thrombotic microangiopathies (5.6%), and metabolic nephropathies (4.1%). Genetically confirmed diagnoses were reported in 24% of all pediatric and 12% adult patients, whereas glomerulopathies had been confirmed by kidney biopsy in 80.4% adult versus 38.5% pediatric glomerulopathy cases. CONCLUSIONS: ERKReg is a rapidly growing source of epidemiological information and patient cohorts for clinical research, and an innovative tool to monitor management quality and patient outcomes

Build our Nation international project: An innovative Educational model for System Thinking in Design.

Ethical decision-making models comprehend elements of systems thinking such as holistic language and value-guided systems. This abstract proposes an innovative educational model for systems thinking in architectural design. Build our Nation is an ongoing international experience of innovative education in Design Studio. A panel of international academic members currently working in different institutions has established a program of co-operation: workshops, exchanges and live events are led by students working together internationally on projects devised in connection to a real-world situation. The model of Build our Nation aims to promote cross-cultural problem solving through value-guided architecture. The highly sensitive social context of the proposed projects challenges the field of Design Studio teaching. Two main trajectories are under investigation, both strongly linked to the extra-curricular nature of the framework: on the one hand the educational context, with the aim to rethinking design; on the other hand the environmental-oriented context, with the aim to rethinking construction

Frequency of urinary tract infection in children with antenatal diagnosis of urinary tract dilatation

Background: Neonates with congenital urinary tract dilatation (UTD) may have an increased risk of urinary tract infections (UTI). At present, the management of these patients is controversial and the utility of continuous antibiotic prophylaxis (CAP) remains uncertain as the literature presents contradicting evidence. The aim of this observational study was to assess UTI occurrence in children with prenatal diagnosis of urinary collecting system dilatation without antibiotic prophylaxis. Methods: Between June 2012 and August 2016, we evaluated the incidence of UTI and the clinical and ultrasonography evolution in 407 children with a prenatally diagnosed UTD. All subjects underwent two prenatal ultrasounds scans (USs) at 20 weeks and 30 weeks of gestation and within 1 month of birth. Patients with a confirmed diagnosis of UTD underwent US follow-up at 6, 12 and 24 months of life. According to the UTD classification system stratify risk, after birth UTD were classified into three groups: UTD-P1 (low risk group), UTD-P2 (intermediate risk group), and UTD-P3 (high risk group). Voiding cystourethrogram was performed in all patients who presented a UTI and in those with UTD-P3. No patient underwent CAP. Results: Postnatal US confirmed UTD in 278 out of 428 patients with the following rates: UTD-P1 (126), UTD-P2 (95) and UTD-P3 (57). During postnatal follow-up, 6.83% patients presented a UTI (19 out of 278). Eleven out of 19 had vesicoureteral reflux (VUR), and other four were diagnosed with obstructive uropathy and underwent surgical correction. Five patients presented a UTI reinfection. Conclusion: The occurrence of UTI in patients with urinary collecting system dilatation was low. The recent literature reports an increased selection of multirestistant germs in patients with VUR exposed to CAP. This study constitutes a strong hint that routine continuous antibiotic prophylaxis could be avoided in patients with UTD

Pilot tone as a key to improving the spatial resolution of eBPMs

At Elettra, the Italian synchrotron light source, an internal project has been started to develop an electron beam position monitor capable of achieving sub-micron resolution with a self-compensation feature. In order to fulfil these requirements, a novel RF front end has been designed. A high isolation coupler combines the input signals with a known pilot tone which is generated by the readout system. This allows the parameters of the four channels to be continuously calibrated, by compensating the different responses of each channel. A similar technique is already known, but for the first time experimental results have shown the improvement in resolution due to this method. The RF chain was coupled with a 4-channel digitizer based on 160\u2005MHz, 16 bits ADCs and an Altera Stratix FPGA. At first, no additional processing was done in the FPGA, collecting only the raw data from the ADCs; the position was calculated through the FFT of each signal. A simulation was also performed to verify the analytic relation between spatial resolution and signal-to-noise ratio; this was very useful to better understand the behaviour of the system with different sources of noise (aperture jitter, thermal noise, etc.). The experimental data were compared with the simulation, showing indeed a perfect agreement with the latter and confirming the capability of the system to reach sub-micrometric accuracy. Therefore, the use of the pilot tone greatly improves the quality of the system, correcting the drifts and increasing the spatial resolution by a factor of 4 in a time window of 24 hours

A Novel Electron-BPM Front End With Sub-Micron Resolution Based on Pilot-Tone Compensation: Test Results With Beam

In this paper we present a novel and original four channel front-end developed for a beam position monitor (BPM) system. In this work, we demonstrate for the first time the continuous calibration of the system using a pilot tone for both beam current dependency and thermal drift compensation, eliminating the need for thermoregulation. By using this original approach, we were also able to investigate several odd and well-known behaviours of BPM systems; the influence of important issues, like the non-linearity of ADCs and the gain compression of amplifiers which do affect the reliability of the measurement, have been fully understood. To achieve these results, we developed a new radio frequency front-end that combines the four pick-up signals originated by the beam with a stable and programmable tone, generated within the readout system. The signals from a button BPM of Elettra storage ring, have been acquired with a 16 bit - 160MS/s digitizer controlled by a CPU that evaluates the acquired data and applies the correction factor of the pilot tone. A final resolution equal to 1.0um, on a 20mm average radius vacuum chamber, has been measured with a long-term stability less than 1um

Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature

Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic disorder with poor genotype-phenotype correlation, caused by mutations in the SLC19A3 gene on chromosome 2q36.6. The disease is characterized by three stages: stage 1 is a sub-acute encephalopathy often triggered by febrile illness; stage 2 is an acute encephalopathy with seizures, loss of motor function, developmental regression, dystonia, external ophthalmoplegia, dysphagia, and dysarthria; stage 3 is represented by chronic or slowly progressive encephalopathy. Clinical and biochemical findings, as well as the magnetic resonance imaging (MRI) pattern, resemble those of Leigh's syndrome, so that BTRBGD can be misdiagnosed as a mitochondrial encephalopathy. Here we report the clinical and radiological phenotypes of two siblings diagnosed with BTRBGD in which a novel SLC19A3 mutation (NM_025243.3: c.548C &gt; T; p.Ala183Val) was found by whole exome sequencing (WES) of the family members