Reciprocating Compressor 1D Thermofluid Dynamic Simulation: Problems and Comparison with Experimental Data

The authors here extend a 0D-1D thermofluid dynamic simulation approach to describe the phenomena internal to the volumetric machines, reproducing pressure waves' propagation in the ducts. This paper reports the first analysis of these phenomena in a reciprocating compressor. The first part presents a detailed experimental analysis of an open-type reciprocating compressor equipped with internal sensors. The second part describes a 0D-1D thermofluid dynamic simulation of the compressor. Comparison of computed and measured values of discharge mass flow rate shows a good agreement between results for compression ratio < 5 . Then, to improve the model fitting at higher pressures, a new scheme has been developed to predict the blow-by through the ring pack volumes. This model is based on a series of volumes and links which simulate the rings' motions inside the grooves, while the ring dynamics are imposed using data from the literature about blow-by in internal combustion engines. The validation is obtained comparing experimental and computing data of the two cylinder engine blowby. After the validation, a new comparison of mass flow rate on the compressor shows a better fitting of the curves at higher compression ratio

Genotype-phenotype correlation of 2q37 deletions including NPPC gene associated with skeletal malformations

Coordinated bone growth is controlled by numerous mechanisms which are only partially understood because of the involvement of many hormones and local regulators. The C-type Natriuretic Peptide (CNP), encoded by NPPC gene located on chromosome 2q37.1, is a molecule that regulates endochondral ossification of the cartilaginous growth plate and influences longitudinal bone growth. Two independent studies have described three patients with a Marfan-like phenotype presenting a de novo balanced translocation involving the same chromosomal region 2q37.1 and overexpression of NPPC. We report on two partially overlapping interstitial 2q37 deletions identified by array CGH. The two patients showed opposite phenotypes characterized by short stature and skeletal overgrowth, respectively. The patient with short stature presented a 2q37 deletion causing the loss of one copy of the NPPC gene and the truncation of the DIS3L2 gene with normal CNP plasma concentration. The deletion identified in the patient with a Marfan-like phenotype interrupted the DIS3L2 gene without involving the NPPC gene. In addition, a strongly elevated CNP plasma concentration was found in this patient. A possible role of NPPC as causative of the two opposite phenotypes is discussed in this study

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions. A detailed phenotypic delineation of interstitial 16p13.3 duplications is hampered by the scarcity of such patients. Objectives To delineate the phenotypic spectrum associated with interstitial 16p13.3 duplications, and perform a genotype-phenotype analysis. Results The present report describes the genotypic and phenotypic delineation of nine submicroscopic interstitial 16p13.3 duplications. The critically duplicated region encompasses a single gene, CREBBP, which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, the duplication arose de novo. Conclusions Interstitial 16p13.3 duplications have a recognizable phenotype, characterized by normal to moderately retarded mental development, normal growth, mild arthrogryposis, frequently small and proximally implanted thumbs and characteristic facial features. Occasionally, developmental defects of the heart, genitalia, palate or the eyes are observed. The frequent de novo occurrence of 16p13.3 duplications demonstrates the reduced reproductive fitness associated with this genotype. Inheritance of the duplication from a clinically normal parent in two cases indicates that the associated phenotype is incompletely penetrant

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

Background: Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and associated loci have been shown to contribute to disease pathogenesis. Nonetheless, a proportion of patients still remains unexplained. Copy Number Variations (CNVs) have already been involved in HSCR, and for this reason we performed Comparative Genomic Hybridization (CGH), using a custom array with high density probes. Results: A total of 20 HSCR candidate regions/genes was tested in 55 sporadic patients and four patients with already known chromosomal aberrations. Among 83 calls, 12 variants were experimentally validated, three of which involving the HSCR crucial genes SEMA3A/3D, NRG1, and PHOX2B. Conversely RET involvement in HSCR does not seem to rely on the presence of CNVs while, interestingly, several gains and losses did co-occur with another RET defect, thus confirming that more than one predisposing event is necessary for HSCR to develop. New loci were also shown to be involved, such as ALDH1A2, already found to play a major role in the enteric nervous system. Finally, all the inherited CNVs were of maternal origin. Conclusions: Our results confirm a wide genetic heterogeneity in HSCR occurrence and support a role of candidate genes in expression regulation and cell signaling, thus contributing to depict further the molecular complexity of the genomic regions involved in the Enteric Nervous System development. The observed maternal transmission bias for HSCR associated CNVs supports the hypothesis that in females these variants might be more tolerated, requiring additional alterations to develop HSCR disease

Le confessioni religiose tra libertà di vivere nella realtà dell'ordinamento statale e potere di creare norme giuridiche all'interno dello Stato. Il caso della Chiesa di Scientology.

L'A. si pone nella prospettiva di delineare il possibile significato della compresenza delle due distinte previsioni, l’una nell’art. 8, l’altra nell’art. 19 della Costituzione, a garanzia del fenomeno associativo religioso. La ricerca è stata redatta, fra l’altro, in considerazione della circostanza che, ad una prima sommaria lettura della Carta Costituzionale, il lettore potrebbe essere indotto a pensare che il fenomeno religioso, ed in particolare quello che si svolge in forma associata, goda di una maggiore preferenza, rispetto a quello che si esprime in forma individuale, per essere più volte disciplinato in Costituzione. Problema, questo, il quale non sembra abbia sinora ricevuto adeguato rilievo dalla dottrina ecclesiasticista che si è meritevolmente impegnata sul tema. Si è posto al riguardo l’interrogativo che nasce dalla presenza di due distinte previsioni costituzionali a garanzia del fenomeno associativo religioso: la prima contenuta nell’art. 8 il quale - com’è noto - regola con novità di linguaggio la posizione dei culti diversi dalla religione cattolica, garantisce alle confessioni religiose l’eguale libertà davanti alla legge, il diritto di organizzarsi secondo i propri statuti ed il potere di concludere intese con gli organi dello Stato; la seconda nell’art. 19 che riconosce la libertà di professare liberamente la propria fede religiosa in qualsiasi forma “individuale o associata”. In ordine ai numerosi problemi che la previsione costituzionale dell’art. 8 solleva, si è riflettuto soprattutto sul dubbio se la fattispecie in essa contemplata sia sostanzialmente ripetitiva e si risolva in un inutile duplicato di quanto disposto dall’art. 19 per la parte che riguarda tale aspetto, oppure se, con ciascuna di tali disposizioni, il legislatore costituzionale abbia voluto conferire uno specifico rilievo a due distinte sfere dell’esperienza giuridica con caratteristiche proprie, per struttura e sistemi di garanzie. L’analisi intrapresa ha interessato anche la ricostruzione della definizione giuridica di confessione religiosa, nonché l’accertamento del carattere confessionale della Chiesa di Scientology alla luce delle sentenze della giurisprudenza costituzionale e di legittimità

Procedural recommendations of cardiac PET/CT imaging: standardization in inflammatory-, infective-, infiltrative-, and innervation (4Is)-related cardiovascular diseases: a joint collaboration of the EACVI and the EANM

With this document, we provide a standard for PET/(diagnostic) CT imaging procedures in cardiovascular diseases that are inflammatory, infective, infiltrative, or associated with dysfunctional innervation (4Is). This standard should be applied in clinical practice and integrated in clinical (multicenter) trials for optimal procedural standardization. A major focus is put on procedures using [18F]FDG, but 4Is PET radiopharmaceuticals beyond [18F]FDG are also described in this document. Whilst these novel tracers are currently mainly applied in early clinical trials, some multicenter trials are underway and we foresee in the near future their use in clinical care and inclusion in the clinical guidelines. Finally, PET/MR applications in 4Is cardiovascular diseases are also briefly described. Diagnosis and management of 4Is-related cardiovascular diseases are generally complex and often require a multidisciplinary approach by a team of experts. The new standards described herein should be applied when using PET/CT and PET/MR, within a multimodality imaging framework both in clinical practice and in clinical trials for 4Is cardiovascular indications

Strategies for radiation dose reduction in nuclear cardiology and cardiac computed tomography imaging: a report from the European Association of Cardiovascular Imaging (EACVI), the Cardiovascular Committee of European Association of Nuclear Medicine (EANM), and the European Society of Cardiovascular Radiology (ESCR).

Cardiolog

The role of myocardial innervation imaging in different clinical scenarios: an expert document of the European Association of Cardiovascular Imaging and Cardiovascular Committee of the European Association of Nuclear Medicine

Cardiac sympathetic activity plays a key role in supporting cardiac function in both health and disease conditions, and nuclear cardiac imaging has always represented the only way for the non-invasive evaluation of the functional integrity of cardiac sympathetic terminals, mainly through the use of radiopharmaceuticals that are analogues of norepinephrine and, in particular, with the use of I-123-mIBG imaging. This technique demonstrates the presence of cardiac sympathetic dysfunction in different cardiac pathologies, linking the severity of sympathetic nervous system impairment to adverse patient's prognosis. This article will outline the state-of-the-art of cardiac I-123-mIBG imaging and define the value and clinical applications in the different fields of cardiovascular diseases.Cardiolog

Cost-effectiveness analysis of stand-alone or combined non-invasive imaging tests for the diagnosis of stable coronary artery disease: results from the EVINCI study

Aim: This study aimed at evaluating the cost-effectiveness of different non-invasive imaging-guided strategies for the diagnosis of obstructive coronary artery disease (CAD) in a European population of patients from the Evaluation of Integrated Cardiac Imaging in Ischemic Heart Disease (EVINCI) study. Methods and results: Cost-effectiveness analysis was performed in 350 patients (209 males, mean age 59 ± 9&nbsp;years) with symptoms of suspected stable CAD undergoing computed tomography coronary angiography (CTCA) and at least one cardiac imaging stress-test prior to invasive coronary angiography (ICA) and in whom imaging exams were analysed at dedicated core laboratories. Stand-alone stress-tests or combined non-invasive strategies, when the first exam was uncertain, were compared. The diagnostic end-point was obstructive CAD defined as &gt; 50% stenosis at quantitative ICA in the left main or at least one major coronary vessel. Effectiveness was defined as the percentage of correct diagnosis (cd) and costs were calculated using country-specific reimbursements. Incremental cost-effectiveness ratios (ICERs) were obtained using per-patient data and considering “no-imaging” as reference. The overall prevalence of obstructive CAD was 28%. Strategies combining CTCA followed by stress ECHO, SPECT, PET, or stress CMR followed by CTCA, were all cost-effective. ICERs values indicated cost saving from − 969€/cd for CMR-CTCA to − 1490€/cd for CTCA-PET, − 3092€/cd for CTCA-SPECT and − 3776€/cd for CTCA-ECHO. Similarly when considering early revascularization as effectiveness measure. Conclusion: In patients with suspected stable CAD and low prevalence of disease, combined non-invasive strategies with CTCA and stress-imaging are cost-effective as gatekeepers to ICA and to select candidates for early revascularization