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• Multiple variants in ALS-related genes are detectable in Familial ALS (FALS). • FALS cases without the pathogenic mutation found in the kindred have been reported. • Our FALS case did not show the p.A5V SOD1 mutation found in his affected relatives. • Our FALS case carried a novel OPTN variant of uncertain significance (VUS). • Discordant genetic results and VUS complicate genetic counselling in FALS. About 10% of Amyotrophic Lateral Sclerosis (ALS) cases are familial (FALS), mainly related to mutations in C9ORF72, SOD1, TARDBP , and FUS genes. Recent data revealed the presence of multiple variants in ALS-associated genes in FALS in excess of what is to be expected by chance. FALS patients not carrying a pathogenic genetic mutation detected in their kindred have been reported. We report a FALS case, who did not carry the p.Ala5Val heterozygous SOD1 mutation that had been detected in other affected subjects of his kindred. He underwent Next-Generation Sequencing, revealing a novel p.Glu46Asp heterozygous OPTN variant of uncertain significance (VUS). Discordant genetic test results in FALS cases within the same family and the detection of variants of uncertain significance increase the complexities of genetic counselling. [ABSTRACT FROM AUTHOR]

Aim of this work is the dynamic simulation of the operation of a small-scale multi-generation system, based on a Solid Oxide Fuel Cell (SOFC) micro-cogenerator (μCHP) coupled to an adsorption chiller, to provide electric and cooling energy to a telecommunication shelter. The dynamic simulation model has been implemented in TRNSYS environment. The μCHP has nominal electric power of 2.5 kW and its thermal output is used to drive a thermally driven adsorption chiller, with nominal cooling power of 10 kW. The performance of both components were experimentally validated under controlled lab conditions. The developed model allowed to optimize the system configuration and to perform an energy and environmental analysis. This analysis demonstrated the possibility of achieving global energy efficiency up to 63% with a CO2 reduction proportional to the electric and cooling load of the telecommunication shelter. [ABSTRACT FROM AUTHOR]

These last decades have seen an exponential increase in the amount of research related to structural health monitoring (SHM) due to its potential for significant life-safety and economic benefits. However, the success of this powerful tool strongly depends on the implemented damage identification strategy. Reliable and efficient damage identification algorithms enable to detect faults that lie beneath the surface of the structure and to spot system’s vulnerabilities at a very early-stage. This allows to adopt appropriate remedial measures in a timely fashion thereby minimizing the risk of unexpected collapses. The present paper describes a spectrum-driven damage identification method that investigates three levels of damage, i.e. detection, localisation and assessment. Peculiarity of the method is the use of spectral frequency -dependent Eigen-parameters estimated from the response Power Spectral Density (PSD) matrix, which is demonstrated to be very sensitive to damage-induced changes. The approach is detailed, including initial assumptions, scientific formulation of the problem and derivation of the algorithm. Finally, the effectiveness of the method is validated through a numerical simulation and verified on a case-study structure. [ABSTRACT FROM AUTHOR]

In the present paper, a simulation tool in TRNSYS environment is presented, aimed at assessing the feasibility of two sorption chillers, namely an adsorption activated carbon/ethanol chiller and an absorption ammonia/water chiller, for the air conditioning of a fish storage cell on board of fishing vessels. A case study, typical of Italian fishing fleet has been analysed and the results reported in terms of fuel savings and avoided emissions. With both technology, savings of more than 1000 kg of fuel per year have been calculated, avoiding the emission of more than 3 tons of CO 2 . Energy analysis has proved that only a minimal fraction of exhaust gases is needed to run the systems and therefore freat potentiality for further exploitation exists. [ABSTRACT FROM AUTHOR]

Combined heat and power (CHP) systems fed by renewable sources are of great interest for efficient and greener energy production in industrial applications. In order to reduce fossil fuel consumption, biomass gasification coupled with I.C.E. is a viable way for ensure constant and accurately predictable renewable energy production. The aim of this work is to evaluate the integration in an industrial context of a CHP system fed by syngas produced from woody biomass gasification in a downdraft reactor. The feasibility study was developed thorough the combination of two simulation programs. Aspen Plus was used for simulating the biomass gasification unit and was exploited in order to determine the syngas composition and flow rate. Results have been employed in TRNSYS, that has instead been chosen for the modeling of the complete CHP system. [ABSTRACT FROM AUTHOR]

Background: Approximately 600,000 total knee arthroplasties (TKA) are performed every year in the United States and the number of procedures has increased substantially every year. These demands may further strain the government, insurers, and patients struggling with increasing healthcare spending. A delay in proceeding to surgery after hospital admission may affect the overall healthcare costs. To our knowledge, the current literature has not addressed the incidence of, and preoperative risk factors for, a surgical delay in TKA.Methods: The ACS-NSQIP 2011 database was reviewed to identify patients undergoing elective primary total knee arthroplasty (TKA) using the Current Procedural Terminology (CPT) code 27447. 14,881 cases were no delay in proceeding to surgery after hospital admission while 139 cases were delayed for TKA. Risk factors or comorbidities contributing to surgical delay in TKA were identified. A univariate analysis of all patient parameters was conducted to measure the difference between the two cohorts. Finally, a multivariate logistic regression analysis was then conducted to identify risk factors or comorbidities for surgical delay.Results: There were 139 cases of surgical delay in TKA (0.93%). Congestive heart failure (P = 0.017), bleeding disorder (P <0.0001), sepsis (P <0.0001), a prior operation in the past 30 days (P <0.0001), dependent functional status (P <0.0001), ASA class 3 (P = 0.046), and hematocrit <38% (P <0.0001) were independent risk factors for a surgical delay. Postoperative medical complication (2.2% vs 0.8%, P < 0.0001) in surgical delay was significantly higher than non-delayed cohort.Conclusion: The optimization of preoperative modifiable risk factors appears to be one of the best strategies to reduce delayed surgery and therefore costs in TKA. [ABSTRACT FROM AUTHOR]

Purpose: To systematize the available scientific literature on the prevalence of articular cartilage and/or osteochondral lesions in football (soccer) players' knees, and overview the surgical procedures and functional outcomes and return to sports.Methods: A comprehensive search using Pubmed, Cochrane Library, SPORTDiscus, and CINAHL databases was carried out until September 30, 2015. All English language studies that assessed the outcomes of a surgical technique for the treatment of articular cartilage lesions in football players' knees, with a minimum follow-up of 12 months, were included. The reference list of the most relevant papers was screened. The main outcomes of interest were the clinical, arthroscopy or imaging primary outcomes and the return to sports rate. The methodological and reporting qualities were assessed according to Coleman methodology score.Results: The search provided 485 titles and abstracts. Five studies were eligible for inclusion (mean Coleman score of 37.2 points), comprising a total of 183 football players with a mean age of 25.7 years. A total of 217 articular cartilage and/or osteochondral lesions were reported, where the medial and lateral femoral condyles were the most common sites of lesion. The surgical procedures investigated were mosaicplasty, microfracture, autologous chondrocyte implantation, and chondral debridement.Conclusions: No definitive conclusion could be made in respect to the best current surgical technique for articular cartilage and osteochondral lesions. Microfracture and mosaicplasty can provide a faster return to competition and faster clinical and functional results, whereas autologous chondrocyte implantation and/or matrix-induced autologous chondrocytes implantation procedures can enhance longstanding clinical and functional results.Level Of Evidence: Level IV, systematic review of Level III and IV studies. [ABSTRACT FROM AUTHOR]

The use of reliable, representative and reproducible data for the assessment of the quality level of HVAC systems and components on seasonal basis is crucial especially in view of the obligation of energy labelling, which is due by September 2015, and of the market surveillance. An analysis on the current normative framework dedicated to sorption chiller has revealed that no exhaustive references for sorption technologies and applications exist. Therefore, two test procedures aimed at the mapping of performances of sorption chillers at full and part load have been developed. The procedures developed take into account also different machines operating modes (i.e. continuous and discontinuous). A first attempt of validation of the test procedures has been carried out and here presented. [ABSTRACT FROM AUTHOR]

Purpose: To kinematically and biomechanically compare 4 different types of tibial tunnel management in single-stage anterior cruciate ligament (ACL) revision reconstruction with the control: primary ACL reconstruction using a robotic-based knee testing setup.Methods: Porcine knees and flexor tendons were used. One hundred specimens were randomly assigned to 5 testing groups: (1) open tibial tunnel, (2) bone plug technique, (3) biodegradable interference screw, (4) dilatation technique, and (5) primary ACL reconstruction. A robotic/universal force-moment sensor testing system was used to simulate the KT-1000 (MEDmetric, San Diego, CA) and pivot-shift tests. Cyclic loading and load-to-failure testing were performed.Results: Anterior tibial translation increased significantly with all of the techniques compared with the intact ACL (P < .05). In the simulated KT-1000 test, groups 2 and 3 achieved results equal to those of primary ACL reconstruction (P > .05). The open tunnel and dilated tunnel techniques showed significantly greater anterior tibial translation (P < .05). The results of the simulated pivot-shift test were in accordance with those of the KT-1000 test. No significant differences could be observed regarding stiffness or maximum load to failure. However, elongation was significantly lower in the primary ACL reconstruction group compared with groups 1 and 3 (P = .02 and P = .03, respectively).Conclusions: Filling an incomplete and incorrect tibial tunnel with a press-fit bone plug or a biodegradable interference screw in a standardized laboratory situation provided initial biomechanical properties and knee stability comparable with those of primary ACL reconstruction. In contrast, the dilatation technique or leaving the malplaced tunnel open did not restore knee kinematics adequately in this model. Backup extracortical fixation should be considered because the load to failure depends on the extracortical fixation when an undersized interference screw is used for aperture fixation.Clinical Relevance: Our biomechanical results could help orthopaedic surgeons to optimize the results of primary ACL revision with incomplete, incorrect tunnel placement. [ABSTRACT FROM AUTHOR]

In this work, an innovative adsorber for application in adsorption heat pumps and chillers is presented. The adsorber consists of several assembled graphite plates and the flow path of heat transfer fluid. Each plate consists of a process side (where zeolite is deposited onto) and a heat transfer fluid (HTF) side where liquid water flows. The resulting adsorbent heat exchanger is able to deliver about 0.5-1 kW cooling power and possesses attractive thermo physical properties, especially in term of low weight, volume and thermal capacity. Experimental testing of the full-scale adsorber by a testing station available at CNR ITAE is currently ongoing. [ABSTRACT FROM AUTHOR]

In this work, a dynamic model for the simulation of solar cooling systems employing adsorption chillers has been evaluated. The model, realised with the commercial software TRNSYS, has been implemented to quantify the effect of different operational and design parameters on the overall performances of solar cooling systems in three different Italian cities (Milan, Rome, Messina). An economic analysis has been performed for an optimised system, in order to evaluate the payback time of the different solutions compared to a traditional air conditioning system, considering also the state incentives introduced since 2012. [ABSTRACT FROM AUTHOR]

Gangliocytic Paraganglioma is rarely reported in the paediatric age. We describe a case of a 4-month-old infant presenting with an intestinal obstruction from ileocolic intussusception led by Meckel's diverticulum. A 4-month-old male infant with intestinal obstruction underwent explorative laparotomy. An intussusception of a small mass in the diverticulum wall was found at surgery, which revealed to be a Gangliocytic Paraganglioma. The occurrence of this type of tumour is peculiar in children and has never been reported in infants and in association with Meckel's diverticulum and intestinal intussusception. [ABSTRACT FROM AUTHOR]

Highlights: [•] Perkinsus marinus is a protozoan parasite that has devastated oyster populations in the USA. [•] Perkinsus marinus proliferation is inhibited by fluridone and atrazine. [•] Perkinsus marinus proliferation is inhibited by antibiotics. [•] The ATP-based assay can be used for the identification of leader compounds against Perkinsus and closely-related parasites. [Copyright &y& Elsevier]

Abstract: Several micro-structured biological tissues are characterized by anisotropy. The dependence of stiffness and strength of the material on the direction is determined mainly by the presence of cable-like micro- and nano-structures made of collagen. Recent findings concerning the arrangement of the structural collagen in biological tissues suggest that, although the functionality would require a prevailing orientation of the fibers, the organization of the organ introduces instead a certain degree of dispersion. In this regard, we propose a material model alternative to the one based on generalized structure tensors, proposed by Gasser et al. (2006). In the present model the strain energy function is assumed to be dependent on the mean value and on the variance of the pseudo-invariant I4 of the fiber distribution. We consider the stress response under standard uniaxial shear and biaxial loading conditions of the proposed model. Finally, we derive an approximated explicit expression of the covariance tensor for the second Piola-Kirchhoff stress and verify such expression via numerical integration. [Copyright &y& Elsevier]

Abstract: The open approach for rhinoplasty offers excellent exposure of the various components of the nose in situ. The biggest advantage of the external approach is the complete anatomic exposure, which allows the surgeon to inspect the osteo-cartilagineous framework, while the biggest disadvantage is represented by the transcolumellar scar. The goal of this study is to numerically quantify the stress induced on the scar of a human columella by a constant load, through a fine tuned finite elasticity continuum model. Specifically we want to determine the best shape of incision which would minimize this stress. The columellar portion of the nose, together with the various constituting tissues, has been modeled in a first approximation as a hyperelastic body and seven types of scars have been studied. The determination of the best incision must be a compromise among different factors: shape and size primarily, but also position with respect to the internal structures and external loads. From this point of view, the best class of scar appears to be, both at simulated and real levels, the V-shaped one, inducing a maximum logarithmic von Mises stress in tissue of 4.67Pa, and an absolute minimum stress distribution on the scar of 4.17Pa. Numerical simulations appear to be in agreement with the evidence-based results coming from surgical practice, thus confirming the necessity to minimize local stresses on the tissue. A parameters’ sensitivity analysis further highlighted our optimal choice. The proposed mathematical model can be applied both to theoretically designed and numerically verified new non-conventional scar geometries. [Copyright &y& Elsevier]

Abstract: Effect of a nutraceutical containing Ortosiphon stamineus leaf extract on blood pressure and metabolic syndrome components in hypertensive dyslipidaemic patients treated with calcium-channel blockers, or angiotensin converting enzyme inhibitors: a randomized clinical trial. [Copyright &y& Elsevier]

Platelet-rich plasma (PRP) is a blood derivate that contains a high value of platelet concentration, a variable number of red blood cells and white blood cell according to the method of preparation. Platelet-derived growth factors are powerful and promising molecules that could be useful in the management of sport-associated injuries, such as tendinopathies, muscular lesions, and cartilage damages, and to improve graft tissue healing. Uncontrolled studies on tendinopathy reported nearly universally good-to-excellent results after treatment with PRP, but this was not the case when controlled studies were undertaken. The studies that augmented surgically repaired tendons or ligaments do not allow reaching a definitive conclusion—too many variables could influence the outcomes. To understand which disorders are more susceptible to the effects of PRP, more basic science studies and better designed clinical studies comparing a standardized PRP formulation are necessary. [Copyright &y& Elsevier]

Introduction: Wolf-Hirschhorn syndrome (WHS) multiple congenital anomalies/mental retardation is caused by partial deletion of the short arm of chromosome 4 and can be considered a contiguous gene syndrome, characterized by typical facial appearance, mental retardation, growth delay, and seizures. Methods: We investigated the ocular defects in a population of 10 patients with WHS and analyzed the relationship between ocular findings and the extent of deletion on chromosome 4. Results: The ocular abnormalities found included hypertelorism, strabismus, refractive errors, epicanthal folds, proptosis, downslanting palpebral fissures, microphthalmos, microcornea, iris coloboma, optic nerve coloboma, ocular cyst, ptosis, glaucoma, and nystagmus. Different breakpoints of the chromosomal rearrangement were observed in individual patients, ranging from 4p15.1 to 4p16.3, and the size of chromosomal deletion ranged from 2.6 to 26 million base pairs. Conclusions: Congenital glaucoma and colobomatous ocular cysts have rarely been described in WHS patients that were previously reported. In all cases exhibiting strabismus, an exodeviation was present. Comparing genotype with ocular phenotype, a relationship between the size of deletion and the severity of the ocular involvement was observed in all cases but one.▪ [Copyright &y& Elsevier]

Abstract: The aim of the study was to conduct a survey using a dedicated questionnaire to estimate feeding difficulties, gastrointestinal involvement and weight gain in a population of 118 Duchenne muscular dystrophy (DMD) patients (age range 13.80–35.8 years). All the answers were entered in a database and the data analysed subdividing the cohort into age groups (3–9, 9–13, 13–18, 18–24, 24–30, 30–36 years). The results indicate that chewing difficulties are frequent and become increasingly present with age, associated with a progressive increase of the duration of meals. Episodes of choking or other clinical signs of swallowing difficulties are in contrast much less frequent even after age 18. Aspiration pneumonia were also not very frequent and only occurred in 7/118. Clinical signs of gastroesophageal reflux requiring treatment were only found in 5 while 43/118 complained of constipation requiring treatment. Very few of our patients had their weight above 2 SD () and this was always found in patients between 9 and 18 years while after this age there was an increasing number of patients with weight below 2 SD. The results of our survey suggest that although choking is one of the most feared complications in patients with DMD, clinical signs of swallowing abnormalities are infrequent when collecting clinical information retrospectively. Further studies using an objective evaluation such as videofluoroscopy are needed to identify minor signs that may not be obvious on clinical examination. [Copyright &y& Elsevier]