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Abstract Purpose Electrochemotherapy (ECT) is a therapeutic approach based on the local application of electrical pulses that permeabilize cell membranes to enhance the uptake of low-permeant chemotherapeutic agents, thus increasing their cytotoxic effects. Materials and methods Twenty-one patients with SCC of the lower lip were treated according to the European Standard Operating Procedures of Electrochemotherapy. Bleomycin (15,000 IU/m2 body surface area) was administered intravenously over a 1-min period. Eight electrical pulses (amplitude, 1000 V/cm; duration, 100 μs) were generated and delivered at a repetition frequency of 5 kHz. Changes in tumor volume were used to assess treatment response. Results Objective response (OR), complete response (CR), and partial response (PR) rates of 100%, 71.4%, and 28.6% respectively were demonstrated following a single session of ECT. ECT was well tolerated, and no adverse events occurred. Conclusions Intravenous bleomycin-based ECT is a safe and effective therapy for SCC of the lower lip. ECT improves the quality-of-life of patients by preserving the function and the aesthetic appearance of the affected area. ECT provides a therapeutic option for elderly and frail patients who, due to their state of health, are not suitable for, or refuse surgical interventions. [ABSTRACT FROM AUTHOR]

Urban areas have a pivotal role to play in climate change mitigation, as they are responsible for a high share of energy consumption and provide many opportunities for more efficient supply & use of energy. This makes the case for energy system modelling at city level, as done within the INSMART EU project, which identified the optimum mix of measures for a sustainable energy future for four European cities in a holistic manner. The approach combined quantitative modelling with Multi-Criteria Decision Analysis. Sector specific data and models (buildings and transport) were articulated into one integrated energy system model based on the TIMES model generator. It was found that urban level energy modelling brings with it a new set of challenges, since for a well-known territory, transparency and effective communication with local decision-makers are even more important than at national or transnational level. Special efforts should be paid to making model results geographically explicit, and urban modelling results should expect scrutiny by local agents. It was found that there is a gap between the scope for action of local energy planners and the most energy intensive urban sectors, which highlighted new priorities instead of those traditionally taken under municipal management. [ABSTRACT FROM AUTHOR]

The European Commission has acknowledged the significance of local and regional communities in its effort to tackle climate change. In this respect a number of initiatives and programmes (e.g. Covenant of Mayors, Covenant of Mayors for Climate and Energy, CONCERTO, CIVITAS, etc.) have been set up in order to engage European cities in the effort towards a low carbon future and an improved quality of life through sustainable economic development. These initiatives have been generally successful and have resulted in the commitment of an increasing number of European cities towards sustainable development goals. At the same time, however, it has been revealed that there is a critical need for improved comprehensive city planning driven by an integrated and strategic approach, focused on cost benefit assessment towards sustainable energy use. This paper presents an innovative city planning approach developed within the EU FP7 project InSMART. It brings together four European municipalities – Evora (Portugal), Nottingham (UK), Trikala (Greece) and Cesena (Italy) –, academics, industries and technical consultants in order to establish a common methodology for enhancing sustainable planning for both the current and future city needs through an integrative and multidisciplinary approach. The methodology develops and employs a number of tools to assess the optimum mix of medium term measures (up to 2030) for a sustainable energy future, addressing the efficiency of energy flows across various city sectors with regards to economic, environmental and social criteria and paving the way towards actual implementation of priority actions. This paper presents the key concepts around this methodology and some selected results of the project (still ongoing). The results refer to the four city partners, all actively involved in developing a more sustainable energy system. Further on, the proposed approach may be replicable to other cities. [ABSTRACT FROM AUTHOR]

Objective The pre-treatment presence of at least six efferent patent vessels (EPV) from the AAA sac and/or AAA thrombus volume ratio (VR%) <40% are considered to be positive predictive factors for persistent type II endoleak (ELIIp). The aim of the present study was to evaluate the effectiveness of sac embolization during EVAR in patients with pre-operative morphological risk factors (p-MRF) for ELIIp. Methods Patients undergoing EVAR and intra-procedural AAA sac embolization (Group A, 2012–2013) were retrospectively selected and compared with a control group of patients with the same p-MRF, who underwent EVAR without intra-procedural sac embolization (Group B, 2008–2010). The presence of ELIIp was evaluated by duplex ultrasound at 0 and 6 months, and by contrast enhanced ultrasound at 12 months. The association between AAA diameter, age, COPD, smoking, anticoagulant therapy, and AAA sac embolization with ELIIp was evaluated using multiple logistic regression. The primary endpoint was the effectiveness of the intra-procedural AAA sac embolization for ELIIp prevention. Secondary endpoints were AAA sac evolution and freedom from ELIIp and embolization related re-interventions at 6–12 months. Results Seventy patients were analyzed: 26 Group A and 44 Group B; the groups were homogeneous for clinical/morphological characteristics. In Group A the median number of coils positioned in AAA sac was 4.1 (IQR 1). There were no complications related to the embolization procedures. A significantly lower number of ELIIp was detected in Group A than in Group B (8/26 vs. 33/44, respectively, p < .001) at discharge, and this was confirmed at 6–12 months (7/26 vs. 30/44 respectively, p = .001, and 5/25 vs. 32/44, respectively, p < .001). On multivariate analysis, intra-procedural AAA sac embolization was the only factor independently associated with freedom from ELIIp at 6 (OR 0.196, 95% CI 0.06–0.63; p = .007) and 12 months (OR 0.098, 95% CI 0.02–0.35; p < .001). No differences in median AAA sac diameter shrinkage were detected between the two groups at 6–12 months ( p = .42 and p = .58, respectively). Freedom from ELIIp related and embolization related re-interventions was 100% in both groups, at 6 and 12 months. Conclusion Selective intra-procedural AAA sac embolization in patients with p-MRF is safe and could be an effective method to reduce ELIIp. Further studies are mandatory to support these results at long-term follow up. [ABSTRACT FROM AUTHOR]

Objective To evaluate four-dimensional contrast-enhanced ultrasound (4D-CEUS) as an alternative imaging method to computed tomography angiography (CTA) during follow up of fenestrated endovascular aneurysm repair (FEVAR) for juxta- and para-renal abdominal aortic aneurysms (AAA). Methods Between October 2011 and March 2012, all consecutive patients who underwent FEVAR follow up were included in the study and evaluated with both 4D-CEUS and CTA. The interval between the two examinations was always ≤30 days. Endpoints were the comparison of postoperative AAA diameter, AAA volume, presence of endoleaks, revascularized visceral vessel (RVV) visualization, and patency. Comparative analysis was performed using Bland–Altman plots and McNemar's Chi-square test. Results Twenty-two patients (96% male, 4% female; mean age 74 ± 7 years; American Society of Anesthesiologists grade III/IV 82%/18%) were enrolled. Seventy-eight RVV (fenestrations: 60; scallops: 17; branches: 1) were analyzed. The mean AAA diameter evaluated by 4D-CEUS and CTA was 45 ± 10 mm (range 30–69 mm) and 48 ± 9 mm (range 32–70 mm), respectively. The mean difference was 3 ± 3 mm. The mean AAA volume evaluated by 4D-CEUS and CTA was 150 ± 7 cc (range 88–300 cc) and 159 ± 68 cc (range 80–310 cc), respectively. The mean difference was 7 ± 4 cc; a Bland–Altman plot revealed agreement in AAA diameter and volume evaluation ( p < .01) between 4D-CEUS and CTA. The observed agreement for the detection of endoleaks was 95%. McNemar's Chi-square test confirmed that 4D-CEUS and CTA were equivalent ( p > .05) at detecting endoleaks. The first segment of six (8%) RVVs (four renal and two superior mesenteric arteries) was not directly visualized by 4D-CEUS owing to obesity, but the contrast enhancement into the distal part of vessel or into the relative parenchyma gave indirect information about their patency. McNemar's Chi-square test demonstrated the superiority of CTA ( p = .031) in visualizing RVVs. The patency of 77/78 RVVs was confirmed with both techniques. McNemar's Chi-square test confirmed that 4D-CEUS and CTA were equivalent in their ability to detect visceral vessel patency. Conclusions The data suggest that 4D-CEUS is as accurate as CTA in the evaluation of postoperative AAA diameter and volume, endoleak detection, and RVV patency after FEVAR. Four-dimensional CEUS could provide hemodynamic information regarding RVVs, and reduce radiation exposure and renal impairment during follow up. Obesity limits the diagnostic accuracy of 4D-CEUS. [ABSTRACT FROM AUTHOR]

Objectives Hepatocyte growth factor (HGF), the c-Met receptor, and hypoxia-inducible factor (HIF) are crucial for regenerative processes including ischemic wound healing. The aims of the present study are (a) to analyze the tissue c-Met and HIF-1α expression in skin from patients with critical limb ischemia (CLI); (b) to compare the serum HGF levels of CLI and control subjects. Methods This is a prospective, controlled, single-center study. Thirty-seven patients were enrolled. A skin sample adjacent to the ischemic lesion was taken from 20 patients with CLI; skin samples were taken from the surgical wounds of 17 patients surgically treated for abdominal aortic aneurysm as healthy controls. Serum samples were taken in all cases. Samples were formalin fixed, paraffin embedded, and routinely processed. Tissue inflammation was histologically assessed. Immunohistochemistry was performed with antibodies against total c-Met receptor, activated Met (p-Met), and HIF-1α. RT-polymerase chain reaction was used to quantify HIF-1α mRNA. The enzyme-linked immunosorbent assay was performed to evaluate serum HGF levels. Results With immunohistochemistry, while total c-Met was unchanged, different patterns of p-Met positivity were observed between CLI and control cases ( p < .001). In particular, CLI skin showed a total negativity or membrane positivity for p-Met (19/20 cases), while control skin mainly showed cytoplasmic positivity in the epidermal basal layer (16/17 cases). HIF-1α was diffusely lost in CLI, but HIF-1α mRNA was threefold higher than in controls. Finally, mean serum HGF levels were 590.5 pg/mL and 2380.0 pg/mL in CLI and control groups respectively ( p < .001). Conclusions In CLI patients a significant decrease in serum HGF levels, concomitant with a loss of skin HIF-1α stabilization and a lack of c-Met phosphorylation were seen, probably driving a decrease in wound-healing functions. The next hypothesis is that HGF application might reactivate the c-Met receptor, stabilizing the normal wound healing process. [ABSTRACT FROM AUTHOR]

Objective/background: The influence of contralateral carotid occlusion (CCO) on the outcome of carotid endarterectomy (CEA) and stenting (CAS) is debated. This study aims to evaluate CEA and CAS results in patients with CCO. Methods: All carotid revascularizations from 2005 to 2011 were analyzed, focusing on the role of CCO on 30-day cerebral events and death (CED). A meta-analysis was performed to evaluate the results of the literature by random effect. Results: Of the 1,218 carotid revascularizations performed in our institution, 706 (57.9%) were CEA and 512 (42.1%) were CAS. CED occurred in 3.6% of the CEAs and 8.2% of the CASs (p = .001). CCO was present in 37 (5.2%) CEAs and 38 (7.4%) CASs. In CEA, CCO patients had a higher CED compared with the non-CCO patients (16.2% vs. 2.9%, p = .001), as confirmed by multiple regression analysis (OR [odds ratio]: 5.1[1.7–14.5]). In CAS, CED was not significantly different in the CCO and non-CCO patients (2.6% vs. 8.7%, p = 0.23). The comparative analysis of the CCO patients showed a higher CED in CEA compared with that in CAS (16.2% vs. 2.6%, p = 0.04). Meta-analysis of 33 papers (27 on CEA and 6 on CAS) revealed that CCO was associated with a higher CED in CEA, but not in CAS (OR: 1.82 [1.57–2.11]; OR: 1.22 [0.60–2.49], respectively). Conclusion: CCO can be considered as a risk factor for CED in CEA, but not in CAS. CAS appears to be associated with lower CED than CEA in CCO patients. [Copyright &y& Elsevier]

Abstract: Steinert myotonic dystrophy is one of the most frequent adult hereditary myopathies. Literature on fatigue showed how relevant this trouble could be for a majority of patients; and also how specific fatigue could be in Steinert disease, compared to other neuromuscular pathologies: in myotonic dystrophy, fatigue and somnolence are two distinct phenomena; the link between fatigue and pain is not significant; there is no correlation between perceived physical activity and actual physical activity, neither between actual physical activity nor subjective fatigue. Thus, more than in any other muscular diseases, factors that are not purely physical seem to be involved in fatigue felt by patients with Steinert disease. Objectives: To better apprehend factors that may be involved in subjective fatigue in Steinert disease. Method: We have examined literature about other affections for which fatigue were richly documented. Fatigue in Chronic Fatigue Syndrome, Parkinson''s disease, Multiple Sclerosis, Alzheimer''s disease, Poliomyelitis and Myasthenia is studied. Physical, mental and subjective fatigues are well known different types of fatigue. However, clinically, it seems inefficient to try to understand those concepts separately, since they are highly intricate. Results: From this literature review, we underlie three possible etiologies of fatigue experienced by subjects with Steinert''s pathology. 1) Central nervous system, in some degrees of alteration, could lead to an objective reduction of the cognitive and physical endurance abilities and to an accurate perception of these perturbations, which result in objective and subjective fatigues, which are highly correlated. We call it “central fatigue”. 2) The functional handicap requires, from an individual, abnormal muscular efforts and important sustained attention (to avoid falls, and/or to anticipate any leisure activity), leading to both physical and mental fatigues. These fatigues would be more or less intense, depending on adaptative strategies engaged by the individual (socially active or not), this is why we call it “adaptative fatigue”. 3) Psychological distress and fatigue could coexist, and/or maintain one and each other. Fatigue is one of the depression symptoms. But depressed subjects would have a tendency to “over-underestimate” their actual physical and cognitive limitations, leading to a subjective fatigue complaint, which is not correlated with objective physical or cognitive fatigue anymore. Anxiety, as a “hyper-vigilance state”, would create a state of mental draining, and would exhaust the cognitive abilities, leading to high level of subjective fatigue. We call it “secondary fatigue”. Conclusion: Our aim now remains in designing a future research, in which we would methodologically study these three factors of fatigue, in adults with Steinert''s myotonic dystrophy. [Copyright &y& Elsevier]

Abstract: Objectives and design: To establish whether in diabetic patients with peripheral artery obstructive disease (PAOD) vasa vasorum (vv) neoangiogenesis is altered with increased arterial damage. Materials: Thirty-three patients with PAOD and critical lower limb ischaemia, 22 with type II diabetes. Methods: Immunohistochemistry for endothelial cell markers (CD34 and von Willebrand Factor); real-time reverse transcription polymerase chain reaction (RT-PCR) to quantify arterial wall expression of vascular endothelial growth factor (VEGF); enzyme-linked immunosorbent assay (ELISA) to assess blood VEGF; flow cytometry to detect circulating endothelial cells (CECs). Results: Patients with PAOD and diabetes have a higher frequency (60% vs. 45%) of advanced atherosclerotic lesions and a significant reduction (p = 0.0003) in CD34+ capillaries in the arterial media. Adventitial neoangiogenesis was increased equally (CD34+ and vWF+) in all patients. Likewise, all patients have increased CEC and VEGF concentration in the blood as well as in-situ VEGF transcript expression. Conclusions: Patients with PAOD have remarkable arterial damage despite increased in-situ and circulating expression of the pro-angiogenic VEGF; a dysfunctional vv angiogenesis was seen in diabetics which also showed a higher frequency of parietal damage; it is suggested that in diabetic arterial wall, injury is worsened by vv inability to finalise an effective VEGF-driven arterial wall neoangiogenesis. [Copyright &y& Elsevier]

Abstract: Objectives: To compare the effectiveness of oral slow-release oxycodone (group OX, n =18) with that of epidural l-bupivacaine (group LRA, n =13) for the control of moderate/severe pain of advanced-stage peripheral arterial obstructive disease (PAOD) patients. Design: Observational and retrospective analysis of advanced stage and hospitalised PAOD patients treated for pain management for at least 7 days prior to surgery or discharged from the hospital without surgery. Methods: The outcome measures were pain intensity using the visual analogue scale under static, (VASs) and dynamic (VASd) conditions; vital signs, treatment side effects and patient satisfaction. Results: In both groups, pain control was satisfactory and VAS scores median were VASs<3 and VASd<4; under dynamic conditions, pain control was better in the LRA group (p <0.01). Against few and transient side effects, most patients (n =30) found both pain treatments good or excellent. Results should be confirmed by studies with larger samples. Conclusions: In the perioperative setting, the epidural infusion of local anaesthetics, such as l-bupivacaine, is an effective technique for pain control in PAOD patients; for patients with contraindication for this technique or for non-surgical or outpatients, slow-release oxycodone is suggested as a possible alternative for the control of severe pain in these patients. [Copyright &y& Elsevier]

The Meseta de Somuncurá is the largest intraplate mafic volcanic field of north Patagonia, Argentina, whose origin is the subject of an ongoing debate and remains uncertain. This contribution presents petrographic, geochemical, and isotopic characteristics of trachybasalts and subordinated basaltic trachyandesites lava flows and basanite volcanic rocks located in the northwestern part of the Meseta de Somuncurá. The trachybasalts and subordinated basaltic trachyandesites lava flows have OIB signature and based on their isotopic composition (0.70406–0.70422 of 87Sr/86Sr and 0.512787–0.512817 of 143Nd/144Nd) and the petrological modelling, they derived from 1 to 5% of partial melting of a spinel-bearing pyroxenitic source, with an isotopic composition equivalent to 97% of DM and 3% of EM1. The basanites comprise a volcanic cone and lava flows of short extension located at the top of the volcanic stratigraphy of the meseta. They carry peridotite xenoliths and are slightly enriched compared with OIB standards. According to their isotopic composition (0.70407 of 87Sr/86Sr and 0.512772 of 143Nd/144Nd) and the petrological modelling, they derived from 0.1 to 1% of partial melting of a garnet-bearing peridotite, with an isotopic composition equivalent to 97% of DM and 3% of EM1, which was affected by metasomatism prior to its melting. Although both studied lithologies show mobile element ratios that suggest slab influence, that is more evident in the trachybasalts than in the basanites. These two groups of rocks were attributed to the early Miocene Vulcanitas Corona Chico unit. However, the new information presented in this contribution shows that the trachybasalts and subordinated basaltic trachyandesite lavas have geological characteristics equivalent to the Vulcanitas Corona Chico unit, while the basanites show differences with this unit. Therefore, we recommend to exclude the basanites from this group and assign them to a different volcanic unit, probably younger than the Vulcanitas Corona Chico unit. This new information and the geochemical data previously published for the basic volcanic units cropping out in the northwestern area of the meseta show an increase in the alkalinity with time, resulting in lower degrees of partial melting in the youngest lavas. In addition, geochemical and isotopic data suggest that the lavas from different volcanic units have distinct mantle sources. Although the volcanic rocks from Meseta de Somuncurá have some geochemical characteristics that could be explained by the presence of rising mantle plume(s), the model that so far best explains the geochemistry and isotopic composition of the volcanic rocks in this region is one that invoke the presence of a stagnant slab below Patagonia. • Petrographic, geochemical, and isotopic characteristics of trachybasalts lava flows and basanite volcanic rocks. • 1 to 5% of partial melting of a spinel-bearing pyroxenitic source, with an isotopic composition equivalent to 97% DM and 3% EM1. • 0.1-1% of partial melting of a metasomatized garnet-bearing peridotite, with isotopic composition equivalent to 97% DM-3% EM1. • We recommend to exclude the basanites from Vulcanitas Corona Chico unit. • The presence of a stagnant slab below Patagonia explains the geochemistry and isotopic composition of the volcanic rocks. [ABSTRACT FROM AUTHOR]

Abstract: Introduction: Kissing balloon technique with two low-profile catheters (KBT) could be the treatment of choice for diseased infrapopliteal artery bifurcation in critical limb ischemia (CLI). Report: From April to December 2006, 8 patients with CLI and tibial artery disease located in the infrapopliteal bifurcation were treated with KBT. Technical success was achieved in all patients without major or minor complications. Discussion: Angioplasty of the bifurcation of the popliteal and tibio-peroneal trunk using KBT is a safe and effective procedure in CLI. [Copyright &y& Elsevier]

Abstract: Duchenne muscular dystrophy (DMD) is a progressive and lethal disease involving a progressive loss of muscular strength, inherited by X-linked recessive transmission. A review of the literature does not reveal any typical psychological profile or personality type in DMD patients. The affected child is rarely told the diagnosis, although this failure has major consequences for his future ability to live with the disease throughout its progression. The progressive loss of mobility culminating in an inability to walk, the loss of the use of the upper limbs, and the multiple surgical interventions are all major hardships for the child. For the patient''s sisters, who are presumptive DMD carriers, it is important to consider a specialized genetics consultation if they are considering a pregnancy with a prenatal diagnosis and an interruption of pregnancy if the infant is a carrier. Finally, and despite the serious prognosis, it is important to help the child and his family to maintain hope, not by denying the illness, but by a progressive adaptation to the reality. [Copyright &y& Elsevier]

Objective: To evaluate the peri-operative results of Anaconda™ endograft in the first 49 cases treated in a single centre. Methods: The study was carried out prospectively on cases of infrarenal abdominal aortic aneurysm (AAA) treated with Anaconda™ endograft. The characteristics of the proximal aortic neck and of the iliac access vessels were considered. The following operative results were assessed: the main body oversizing, the need to correct the positioning of the main body, the use of iliac extensions, the use of ballooning, the covering of patent hypogastric arteries, the presence of endoleaks and the need for conversion. Peri-operative (30 days) mortality and morbidity were also considered. Results: Of the 49 cases treated, 44 were males with a mean age of 73 years (range: 55–89 yrs; SD±7 yrs). The mean diameter of the AAA was 56mm (range 45–91mm; SD±11); 4 cases had common iliac aneurysms with a diameter >3cm. The mean neck diameter and length were 23mm (range 19–28mm; SD±3) and 25mm (range 15–50mm; SD±10) respectively. An aortic neck angle between 40° and 70° was present in 10 cases (20%) (mean 58°; SD±15°), and 20 cases (41%) had iliac tortuosity with an angle greater than 60° (mean 85°; SD±25°). There were no cases of conversion or intra-operative death. One (2%) peri-operative death occurred, for reasons not related to the endograft. There were two cases of iliac limb thrombosis. CT at one month showed 12 cases (25%) of type II endoleak. There were no cases of type I or type III endoleaks. Conclusions: The preliminary data of this series demonstrates that the Anaconda™ endograft has good peri-operative results in the treatment of infrarenal AAAs with a neck length not less than 15mm. [Copyright &y& Elsevier]

Objective: To establish the risk of carotid artery stent (CAS) complications in patients with aortic arch anomalies. Methods: In a prospective series of patients submitted to CAS, all cases with arch anomalies were compared with cases with normal arch anatomy (type I, II and III) in order to assess the impact of anatomic characteristics on technical and clinical outcome. Outcome was evaluated in term of neurological complications and technical success. Results: Of 214 consecutive patients undergoing CAS, 189 (88.3%) had normal arch anatomy and 25 (11.7%) arch anomalies. The arch abnormalities included common origin of brachiocephalic trunk and left common carotid artery in 22 cases (10.2%), separate origin of right subclavian and common carotid in 2 cases (0.9%) and left common carotid agenesis with separate arch origin of internal and external carotid in 1 case (0.5%). The two groups were not different in term of epidemiology and preoperative clinical and morphological characteristics. Technical failure occurred overall in 26 cases (12%) and neurological complication in 14 cases (6.5%). All symptoms were temporary. Technical failure was higher in the arch anomaly group; however the difference did not reach statistical significance (89.6% vs 76.4%, P =0.1). Neurological complications occurred more frequently in the arch anomaly group (20% vs 5.3%, P =0.039). Type of arch was the only variable independently associated with neurological complications (OR=2.01, p =0.026). Conclusion: Aortic arch anomalies are not infrequent and are associated with increased risk of neurological complications. The indication for CAS should be carefully evaluated in these cases. [Copyright &y& Elsevier]

Aim: Little data is available on surgical “rescue” of failed carotid stents (CAS). We have analyzed a series of CAS failures treated by conventional open surgery. Report: Five patients underwent surgery after CAS failure, either electively (4) or as an emergency (1). Elective surgical “rescue” was for stent restenosis (2 cases) or stent misplacement (2 cases). Emergency surgery was performed for entrapment of the protection system in the stent. Surgical rescue was accomplished by perimedial endarterectomy and “en bloc” plaque and stent extraction in 3 cases, and by vein bypass in 2 cases, with no neurological complications. Conclusion: Surgical rescue of failed CAS is effective. [Copyright &y& Elsevier]

Hereditary heart diseases (cardiomyopathy & channelopathies) are most often characterized by autosomal dominant inheritance and delayed cardiac expression. The risk of complications of these diseases are sudden cardiac death and heart failure. Medical management allow to reduce significantly, but does not cancel, the risk of complications. If the causal mutation is known, couples with a pregnancy project may discuss the use of prenatal genetic diagnosis (PND) or preimplantation genetic diagnosis (PGD). The use of PND or PGD in these diseases is controversial and the medical, ethical and psychological issues are particularly complex. The aim of this study was (i) to collect at national level the procedures of PNDs and PGDs in the context of "isolated" hereditary heart disease; (ii) obtain the opinion of patients about this issue. The data collected with help of the French Biomedicine Agency show that 18 PND were carried out in France between 2009 and 2017 and 13 PGD between 2013 and 2017. So, number of PND and PGD for hereditary heart disease is rare in comparison of the relatively high prevalence of these diseases. The opinion of 20 patients (95% with cardiomyopathy), followed at Pitié-Salpêtrière referral center for hereditary heart diseases, was prospectively collected via auto-questionnaires. Their answers show that few know the options (PND, PGD, gamete donation, adoption): only 25% are aware of all the alternatives. Despite this, 45% of patients mentioned that they did not want more information about these procreation options. Moreover, 45% consider the use of a PND to be fully acceptable or acceptable and 75% for the use of PGD, although they would not ask for themselves. We report the first data about procreation procedures in France, and wishes of patients, in non-syndromic hereditary heart diseases. This may help to better manage these complex issues in clinical practice. [ABSTRACT FROM AUTHOR]

Hereditary heart diseases are most often characterized by autosomal dominant inheritance and delayed cardiac expression. Predictive genetic testing (PGT) is offered to asymptomatic relatives to allow targeted medical care with early therapeutics in order to reduce the risk of complications. The aim of this study was to evaluate the psychological and socio-professional impact of predictive genetic testing in hereditary heart diseases through a prospective and retrospective study. This multicentric French study involved 20 expert centers in hereditary heart diseases. We included 517 adult relatives (42.3 ± 16.7 years, 60.6% females) who performed PGT (prospective study: n = 264, retrospective study: n = 253). The opinion and experience were collected via auto-questionnaires, at various moments in the prospective study, with different items and validated scales (STAI and IES). In the prospective study, family history was characterized by cardiomyopathy (88.4%) and channelopathies (11.6%). The main motivations for performing the test were: "to remove doubt" (65.3%), "for children" (64.0%), "to benefit from medical supervision" (34.9%). A mutation was present in 39.4% of relatives. No regret was expressed after testing (only 2.3% regrets). The result did not lead to a socio-professional change or family relationship change in 60.7%. Among those who had a change, it was perceived as unfavorable for only 3%. The level of anxiety (STAI) increases before the test result and decreased to return to baseline. Subjects with depression history were more likely to develop anxiety at long-term after multivariate analyses (P = 0.004). Our results show that contrary to a widespread opinion, the medical benefit was not the main motivation for predictive genetic testing. In most cases, no or marginal adverse psychological and socio-professional impact of genetic testing was observed when performed by a team expert in predictive testing. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To evaluate the effectiveness of peripheral angioplasty (PTA) as the first-choice revascularisation procedure in diabetic patients with critical limb ischemia (CLI). Design: Prospective study. Methods: PTA was employed as first choice revascularisation in a consecutive series of diabetic patients hospitalized for CLI between January 1999 and December 2003. Results: PTA was successful performed in 993 patients. Seventeen (1.7%) major amputations were carried out. One death and 33 non-fatal complications were observed. Mean follow-up was 26±15 months. Clinical restenosis was observed in 87 patients. The 5 years primary patency was 88%, 95% CI 86–91%. During follow-up 119 (12.0%) patients died at a rate of 6.7% per year. Conclusions: PTA as the first choice revascularisation procedure is feasible, safe and effective for limb salvage in a high percentage of diabetic patients. Clinical restenosis was an infrequent event and PTA could successfully be repeated in most cases. [Copyright &y& Elsevier]

Dans la famille, dans la cité ou dans les lieux d'inclusion, les situations mixtes sont riches pour les enfants en situation de handicap comme pour les enfants typiques et contribuent à la mise en œuvre des principes de la Convention des Nations Unies. En identifiant les facteurs qui favorisent ou entravent les relations entre pairs pour les jeunes enfants âgés de 1 à 6 ans en situation de handicap, cette recherche visait à contribuer à l'amélioration des pratiques afin de soutenir les situations d'inclusion et limiter l'isolement de ces enfants. Trente-deux enfants atteints de déficience motrice, de déficiences motrice et intellectuelle associées, ou de polyhandicap, ont été observés pendant 18 mois, à domicile, en milieu inclusif et en milieu spécialisé, à l'aide de livrets d'observation renseignés par les parents et les professionnels en fonction du lieu d'observation. Des entretiens de recherche ont été menés en fin d'étude avec les parents et les professionnels participants. Les verbatims des observations et des entretiens ont fait l'objet d'une analyse de contenu thématique. Après avoir fait le constat que les enfants en situation de handicap étaient plus isolés, six facteurs favorisant ou entravant les interactions ont été identifiés : (i) l'expérience relationnelle des enfants en situation de handicap avec des enfants familiers, (ii) la taille du groupe d'enfants dans lequel ils évoluaient, (iii) l'intervention de l'adulte dans les relations entre enfants, (iv) les caractéristiques de la pathologie, (v) les traits de caractère des enfants, et enfin (vi) l'environnement matériel et humain dans lequel ils ont été accueillis. La discussion conclusion porte sur l'analyse des processus à l'œuvre dans la création des interactions entre les enfants en situation de handicap et leurs pairs, ce qui ouvre des perspectives cliniques en termes d'accompagnement des enfants et de leur famille. In the family, in the city or in places of inclusion, mixed situations are rich for children with disabilities as well as for typical children and contribute to the implementation of the principles of the United Nations Convention. By identifying the factors that promote or hinder peer relationships for young children aged 1 to 6 with disabilities, this research aimed to help improve practices in order to support inclusive situations and limit the isolation of these children. Thirty-two children who had motor, or intellectual and motor disabilities, or multiple disability, were observed for 18 months, at home, in inclusive settings and in specialised settings, using observation booklets filled in by parents or professionals depending on the place of observation. Research interviews were conducted at the end of the study with participating parents and professionals. The verbatims of the observations and interviews were subject to a thematic content analysis. After noting that children with disabilities were more isolated than others, six factors were identified as promoting or hindering interaction : (i) the relational experience of children with disabilities with familiar children, (ii) the size of the group of children in which they evolved, (iii) the intervention of the adult in the relationships between children, (iv) the characteristics of the pathology, (v) the character traits of the children, and finally (vi) the material and human environment in which they were welcomed. The discussion conclusion focuses on an analysis of the processes at work in the creation of interactions between children with disabilities and their peers, which opens up clinical perspectives in terms of support for children and their families. [ABSTRACT FROM AUTHOR]

Abstract: Shotgun injuries to the maxillofacial region may have minor or, more often, devastating consequences. The most important factor in determining the extent of injury is the distance of the victim from the muzzle of the gun: usually, the longer the distance, the less severe the damage. Here is reported a case of shotgun injury sustained from a distance of approximately 10m in which the deeper penetration of a single lead pellet led to significant involvement of the temporomandibular joint. [Copyright &y& Elsevier]

Introduction: We report a case of staged endovascular and hybrid treatment of recurrent thoracoabdominal aneurysms (TAAA) in a 55-year-old HIV-positive man. Report: A patient, who had previously been surgically treated for a type III TAAA, presented with recurrent aneurysms. The patient was treated by a combination of endovascular and open surgery. Neither visceral nor spinal ischemia were observed. Conclusion: The hybrid treatment of recurrent TAAA could offer lower mortality and morbidity. Patients with HIV/AIDS treated for aortic aneurysms require close follow-up. [Copyright &y& Elsevier]

The Meseta de Coli Toro is a mafic volcanic plateau located in the Río Negro province, north of Patagonia, Argentina. It belongs to the Somún Cura Massif geological province and its origin remains uncertain. The previous information concerning the volcanic rocks of Meseta de Coli Toro is limited to field outcrop and petrographic descriptions and one bulk rock geochemical analysis. Based on that information, the lavas were included in the Basalto Meseta Coli Toro unit. This contribution presents new petrographic and geochemical information from three different areas of the plateau: northeastern, central, and western, contributing to the knowledge of the origin and evolution of this volcanic plateau. Most of the studied lava flows classify as alkali basalts with OIB signature. Regarding their petrological features and geochemical signature the lava flows were linked to the Oligocene-Middle Miocene volcanism of the Meseta de Somuncurá in northern Patagonia, specifically to the Vulcanitas Corona Chico unit. Based on a published isotope analysis (87Sr/86Sr = 0.70439 and 143Nd/144Nd = 0.51275) and the petrological modelling proposed by other authors for the Vulcanitas Corona Chico unit, the lava flows of Basalto Meseta Coli Toro unit derived from 1 to 8% of partial melting of a spinel-bearing pyroxenite source, with an isotopic composition equivalent to 96% of DM and 4% of EM1. • New petrographic and geochemical information from three different areas of the Meseta de Coli Toro. • Were linked to the Oligocene-Middle Miocene Vulcanitas Corona Chico unit. • Basalto Meseta Coli Toro is 1-8% melting of a spinel-bearing pyroxenite source with isotopic composition: 96% DM - 4% EM1. • The origin of the Meseta de Coli Toro could be similar to that proposed for the Meseta de Somuncurá. • Basalto Meseta Coli Toto lavas are alkaline basalts with features consistent with OIB standards and intraplate magmatism.. [ABSTRACT FROM AUTHOR]

This work aims to describe the improvements experienced by spinal muscular atrophy (SMA) adult patients with treatments using qualitative methods. While therapeutic treatments of SMA have rapidly developed, difficulties arise to define the specificity of the drugs' effects compared with routine management due to the lack of clinical trials in adults. We performed a secondary analysis of a qualitative study directed by a scientific committee of SMA specialists, carried out in 8 specialized centers and involving 18 adult patients and 31 HCPs interviewed by a sociologist. A thematic analysis of the transcriptions of patients' interviews was performed focused on the perceived effects of treatments. 18 patient interview transcriptions were reviewed. 13 patients report having the experience of a treatment: 11 ongoing, 2 discontinued. According to their SMA type and the severity of their disabilities, they report different kinds of improvements of the treatment described into 3 categories according to the International Classification of Functioning, Disability and Health (ICF): improvement of strength and endurance (body functions and structures), of function (activities) and of fatigue (social participation). Patients with severe disabilities (non-ambulant with severe limitations of distal function of superior limbs, swallowing impairment and/or speech difficulties) report improvement of their speech in volume and endurance as of the strength and endurance of their fingers which improve their manipulation of electric wheelchair, computer and time of social participation. On the other hand, ambulant patients report improvement of their walking endurance and less fatigability in their daily activities. SMA adult patients report improvements that are not measured with existing assessment tools due to their lack of sensitivity. This work highlights the need for more sensitive and reliable assessments and provides insights for their development. [ABSTRACT FROM AUTHOR]

This study aims to understand how French healthcare professionals (HCPs) deal with the challenge of evaluating spinal muscular atrophy (SMA) adult patients with severe disabilities. SMA assessment is important for guiding care and objectifying the effects of treatments. However, SMA existing assessment tools have limitations especially with adult patients with severe disabilities. We performed a secondary analysis of a qualitative study directed by a scientific committee of SMA specialists, carried out in 8 specialized centers and involving 18 patients and 31 HCPs interviewed by a sociologist. A thematic analysis of the transcriptions of HCPs interviews was performed focused on the evaluation practices for SMA adult patients with severe disabilities (type 1b & 2). 31 HCPs interview transcriptions were reviewed. 26 HCPs report a lack of sufficiently sensitive and accurate evaluations for type 1b & 2 SMA adult patients and 20 HCPs report having to complement them with unofficial evaluations: ad hoc indicators co-decided with patients or in-house non validated instruments. 38 unofficial evaluations were created by HCPs for type 1b or type 2 SMA adult patients to take into account specificities of these patients poorly addressed by existing assessments such as: 1) invasive ventilation 2) swallowing impairment 3) severe limitations of distal function of superior limbs 4) speech difficulties 5) global fatigability. These unofficial evaluations can be classified in 10 domains: 1. respiratory aptitudes 2. swallowing 3. hand and fingers dexterity 4. meal length or structure 5. fatigue 6. finger strength 7. head support 8. pronunciation 9. social participation time 10. ad hoc daily life abilities. Also concerns arise regarding the validity and reliability of such measures. This unprecedented work highlights the needs for sensitive hence reliable and feasible assessment for SMA adult patients with severe disabilities. [ABSTRACT FROM AUTHOR]

Abstract: Objectives of the study: To better understand, firstly, what the physician anticipates in regard to the announcement he is to make to parents whose child suffers from severe-chronic disease: his objectives, his interlocutors, the emotions he will be confronted with, the hurdles he will encounter, the development of the process and, secondly, how the caregivers, who do not attend the announcement, imagine this scene and what their presence could bring. Particular attention is paid to the position allotted to fathers as well as siblings by both populations. Population: Twelve hospital doctors (six men, six women), 12 women caregivers working in 10 wards throughout hospitals in the Paris region and the province (outpatient consultations or hospitalization) for pathologies of various nature at various periods of time. Method: Three-way analysis of the corpus of semidirective interviews that are tape-recorded: specific psychodynamics, automatic screening of discourse, thematic. Results: The physician describes a tragedy, primarily addresses the mother, feels as though speaking to the father – except in neonatology – and to the children puts him in a predicament. He experiences the satisfaction of a deed well-done, despite feelings of solitude, failure and shame that he attempts to conceal behind the mightiness of knowledge that is to be transmitted. Decisions concerning abortion for medical reasons place a burden on him. The caregivers believe they are able to help the doctor by being present during the announcement given their closeness to the parents, whom they readily place in a near future made remediable by speaking of handicap rather than disease. Conclusion: Doctors, in fear of emotional contagion, grant privilege to informative discourse to the detriment of empathetic communication and suffer from a feeling of failure. [Copyright &y& Elsevier]

Steinert myotonic dystrophy (MyD) is the most frequently inherited neuromuscular disorder (incidence 1/8000) with autosomal dominant transmission. The gene has been identified on the long arm of chromosome 19 and corresponds to an unstable mutation with (CTG)n triplet expansion. There is an important variation in severity of cognitive impairment. Congenital form is characterized by frequent and severe mental retardation (60% of cases), whereas in the classic form of adult, cognitive deficits affect executive functions, memory and visuoconstructive abilities. Evaluation of general cognitive abilities in the childhood form has been scarcely investigated. Results report (1) a link between phenotype (congenital versus childhood form) and full scale IQ (Staeyert et al., 1997), and (2) about the childhood form in particular, a correlation between (CTG)n triplet expansion in affected children/transmitting parent’s sex and transmitting parent’s sex/children IQ. Note that most of the children or adolescents showed learning disabilities (60% of the subjects). This problem is one of the most prominent symptom evoked in consultation. [Copyright &y& Elsevier]

• Quality of life is reduced in myasthenia gravis. • The role of exercise therapy to improve quality of life has not been explored. • This is the first prospective randomized controlled trial of home-based, unsupervised exercise therapy in MG. • Home-based exercise therapy was well-tolerated but did not improve quality of life. The tolerance of exercise and its effects on quality of life in myasthenia gravis are not currently backed up by strong evidence. The aim of this study was to determine whether exercise as an adjunct therapy is well tolerated and can improve health-related quality of life (HRQoL) in stabilized, generalized autoimmune myasthenia gravis (gMG). We conducted a parallel-group, multi-center prospective RCT using computer-generated block randomization. Adults with stabilized, gMG, and no contra-indication to exercise, were eligible. Participants received usual care alone or usual care and exercise. The exercise intervention consisted of 3-weekly 40 min sessions of an unsupervised, moderate-intensity home rowing program over 3 months. The primary endpoint was the change in HRQoL from randomization to post-intervention. Assessor-blinded secondary endpoints were exercise tolerance and effects on clinical, psychological and immunological status. Of 138 patients screened between October 2014 and July 2017, 45 were randomly assigned to exercise (n = 23) or usual care (n = 20). Although exercise was well tolerated, the intention-to-treat analysis revealed no evidence of improved HRQoL compared to usual care (MGQOL-15-F; mean adjusted between-groups difference of -0.8 points, 95%CI -5.4 to 3.7). Two patients hospitalized for MG exacerbation were from the usual care group. [ABSTRACT FROM AUTHOR]

In a world where an increasing share of the population lives in cities, its energy transition is gaining more relevance. The decision-making process in urban planning is frequently fragmented across departments considering different criteria. Integrated city planning approaches are not commonly employed, especially for the promotion of sustainable energy. This paper presents an innovative approach to promote holistic decision-support combining complex integrated city energy system models (ESM) with effective stakeholder input using a Multi-Criteria Decision Analysis (MCDA). A holistic optimization city-ESM, based on the TIMES model generator, was developed and implemented in four European cities (Évora in Portugal, Cesena in Italy, Nottingham in UK and Trikala in Greece). Each city defined a range of future scenarios for sustainable energy promotion up to 2030 which were modelled in the city-ESM. The scenarios considered both individual measures, such as expansion of bicycle lanes, and combinations of measures. Going one step further from typical approaches in urban energy modelling, the modelling work was carried out in close cooperation with city stakeholders whom participated not only in the definition of the modelled scenarios, but also on the critical review of the modelling results. This review was conducted through a MCDA exercise which considered both quantitative and qualitative criteria in the selection of candidate scenarios to be implemented. It was found that there are substantial differences in most desirable scenarios if the MCDA is performed as well or if only the city-ESM model results are considered. The critical review of quantitative modelling results and their ranking via the MCDA led to improved communication of model results to non-modellers, which in turn made possible a better scrutiny and improvement of the modelling. It is concluded that at an urban level is important to combine qualitative analysis with quantitative modelling to identify the optimum mix of measures for a sustainable urban energy future. • We present a holistic approach for developing EU cities decarbonisation pathways. • The InSMART approach was implemented in four European cities and countries. • Combine quantitative energy systems modelling and Multi-Criteria Decision Analysis. • Participatory scenario development and analysis is crucial for effective pathways. • Stand-alone energy systems modelling is not adequate for cities energy transition. [ABSTRACT FROM AUTHOR]

Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate to severe intellectual disability in the congenital form, to executive, visuospatial and personality dysfunction in the adult-onset form. Studies exploring the cognitive or psychiatric impairments in the childhood form of DM1, characterized by an age of onset between one and ten years, uneventful pre and post natal history and normal development the first year of life, are scarce and show conflicting results in regard to a comorbid diagnosis of Autism Spectrum Disorder (ASD). The aim of the current review is to summarize diagnostic criteria and update the state of the debate regarding comorbidity. Evidence from 9 studies collected in PubMed database (representing a total of 175 cases) focusing on clinical, neuropsychological and neuroimaging domains in childhood DM1 is considered and similarities or differences between childhood DM1 and ASD are identified. Highlighting what is known about the neurocognitive features specific to the childhood-onset form of DM1 could help (1) propose early screening regarding socio-emotional and attentional/executive functions or (2) implement therapeutic programs based on reinforcement of executive skills or social cognition. [ABSTRACT FROM AUTHOR]