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BACKGROUND: Recently, Rommens and Hoffman introduced a CT-based classification system for fragility fractures of the pelvis (FFP). Although fracture characteristics have been described, the relationship with clinical outcome is lacking. The purpose of this study was to get insight into the type of treatment and subsequent clinical outcome after all types of FFP. METHODS: A cross-sectional cohort study was performed including all elderly patients (≥ 65 years) with a CT-diagnosed FFP, between 2007-2019 in two level 1 trauma centers. Data regarding treatment, mortality and clinical outcome was gathered from the electronic patient files. Patients were asked to complete patient-reported outcome measures (PROMs) regarding physical functioning (SMFA) and quality of life (EQ-5D). Additionally, a standardized multidisciplinary treatment algorithm was constructed. RESULTS: A total of 187 patients were diagnosed with an FFP of whom 117 patients were available for follow-up analysis and 58 patients responded. FFP type I was most common (60%), followed by type II (27%), type III (8%) and type IV (5%). Almost all injuries were treated non-operatively (98%). Mobility at six weeks ranged from 50% (type III) to 80% type II). Mortality at 1 year was respectively 16% (type I and II), 47% (type III) and 13% (type IV). Physical functioning (SMFA function index) ranged from 62 (type III and IV) to 69 (type II) and was significantly decreased (P=<0.001) compared to the age-matched general population. Quality of life was also significantly decreased, ranging from 0.26 (type III) to 0.69 (type IV). CONCLUSIONS: FFP type I and II are most common. Treatment is mainly non-operative, resulting in good mobility after six weeks, especially for patients with FFP type I and II. Mortality rates at one year were substantial in all patients. Physical functioning and quality of life was about 20-30% decreased compared to the general population.
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Fraturas Ósseas , Fraturas por Osteoporose , Ossos Pélvicos , Idoso , Estudos Transversais , Humanos , Fraturas por Osteoporose/diagnóstico por imagem , Fraturas por Osteoporose/terapia , Ossos Pélvicos/diagnóstico por imagem , Pelve/diagnóstico por imagem , Qualidade de Vida , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
Isotope shifts of ^{223-226,228}Ra^{19}F were measured for different vibrational levels in the electronic transition A^{2}Π_{1/2}âX^{2}Σ^{+}. The observed isotope shifts demonstrate the particularly high sensitivity of radium monofluoride to nuclear size effects, offering a stringent test of models describing the electronic density within the radium nucleus. Ab initio quantum chemical calculations are in excellent agreement with experimental observations. These results highlight some of the unique opportunities that short-lived molecules could offer in nuclear structure and in fundamental symmetry studies.
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BACKGROUND: For years ebike (Pedelec) sales have been steadily increasing. Therefore, the incidence of ebike-related injuries and deaths has been growing. Due to clinical experience, emergency personnel are suspecting that ebikers might be injured more severely compared to conventional bicyclists suffering from an accident. This topic has not yet been analyzed for Germany. OBJECTIVE: Analysis of injury severity and mortality following ebike and conventional bicycle accidents in a level I trauma center in Germany. MATERIAL AND METHODS: Data of patients treated after a bicycle accident at the accident and emergency department as well as the clinic for traumatology and orthopedics of the Evangelical Hospital (Evangelisches Krankenhaus) Oldenburg were gathered from 1 March 2017 to 1 March 2019. RESULTS: In this study 59 electric bicycle users (e-bikers) and 164 conventional cyclists were included. The average age of ebikers was 62 years compared to 48 years in the group of conventional cyclists. Comorbidities were significantly more frequent in the ebike group compared to classical cyclists. The ebikers were found to be significantly more severely injured than conventional bicyclists, the mean injury severity scores (ISS) were 5.2 and 3.4, respectively. Ebikers were admitted to the hospital more often and for longer periods than the control group. There was no significant difference in mortality. CONCLUSION: Ebikers are more severely injured in accidents compared to conventional cyclists. Due to older age and comorbidity they form a sensitive trauma subgroup. Based on demographics, an increase of old age, more frail cyclists and a growing incidence of serious ebike accidents is to be expected. Preventive measures, such as helmet usage and riding lessons should be introduced, especially in ebikers. Ebikers in the emergency department should be examined and treated with special care and aggressive diagnostics. A low threshold for an initial interdisciplinary assessment (shock room management) is advised.
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Acidentes de Trânsito , Ciclismo , Idoso , Alemanha/epidemiologia , Dispositivos de Proteção da Cabeça , Humanos , Incidência , Escala de Gravidade do Ferimento , Pessoa de Meia-IdadeRESUMO
The mean-square charge radii of ^{207,208}Hg (Z=80, N=127, 128) have been studied for the first time and those of ^{202,203,206}Hg (N=122, 123, 126) remeasured by the application of in-source resonance-ionization laser spectroscopy at ISOLDE (CERN). The characteristic kink in the charge radii at the N=126 neutron shell closure has been revealed, providing the first information on its behavior below the Z=82 proton shell closure. A theoretical analysis has been performed within relativistic Hartree-Bogoliubov and nonrelativistic Hartree-Fock-Bogoliubov approaches, considering both the new mercury results and existing lead data. Contrary to previous interpretations, it is demonstrated that both the kink at N=126 and the odd-even staggering (OES) in its vicinity can be described predominately at the mean-field level and that pairing does not need to play a crucial role in their origin. A new OES mechanism is suggested, related to the staggering in the occupation of the different neutron orbitals in odd- and even-A nuclei, facilitated by particle-vibration coupling for odd-A nuclei.
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INTRODUCTION: Twenty years ago the Dutch trauma care system was reformed by the designating 11 level one Regional trauma centres (RTCs) to organise trauma care. The RTCs set up the Dutch National Trauma Registry (DNTR) to evaluate epidemiology, patient distribution, resource use and quality of care. In this study we describe the DNTR, the incidence and main characteristics of Dutch acutely admitted trauma patients, and evaluate the value of including all acute trauma admissions compared to more stringent criteria applied by the national trauma registries of the United Kingdom and Germany. METHODS: The DNTR includes all injured patients treated at the ED within 48 hours after trauma and consecutively followed by direct admission, transfers to another hospital or death at the ED. DNTR data on admission years 2007-2018 were extracted to describe the maturation of the registry. Data from 2018 was used to describe the incidence rate and patient characteristics. Inclusion criteria of the Trauma Audit and Research (TARN) and the Deutsche Gesellschaft für Unfallchirurgie (DGU) were applied on 2018 DNTR data. RESULTS: Since its start in 2007 a total of 865,460 trauma cases have been registered in the DNTR. Hospital participation increased from 64% to 98%. In 2018, a total of 77,529 patients were included, the median age was 64 years, 50% males. Severely injured patients with an ISS≥16, accounted for 6% of all admissions, of which 70% was treated at designated RTCs. Patients with an ISS≤ 15were treated at non-RTCs in 80% of cases. Application of DGU or TARN inclusion criteria, resulted in inclusion of respectively 5% and 32% of the DNTR patients. Particularly children, elderly and patients admitted at non-RTCs are left out. Moreover, 50% of ISS≥16 and 68% of the fatal cases did not meet DGU inclusion criteria CONCLUSION: The DNTR has evolved into a comprehensive well-structured nationwide population-based trauma register. With 80,000 inclusions annually, the DNTR has become one of the largest trauma databases in Europe The registries strength lies in the broad inclusion criteria which enables studies on the burden of injury and the quality and efficiency of the entire trauma care system, encompassing all trauma-receiving hospitals.
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Centros de Traumatologia , Ferimentos e Lesões , Idoso , Criança , Europa (Continente) , Feminino , Alemanha , Humanos , Escala de Gravidade do Ferimento , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Reino Unido , Ferimentos e Lesões/epidemiologia , Ferimentos e Lesões/terapiaRESUMO
Molecular spectroscopy offers opportunities for the exploration of the fundamental laws of nature and the search for new particle physics beyond the standard model1-4. Radioactive molecules-in which one or more of the atoms possesses a radioactive nucleus-can contain heavy and deformed nuclei, offering high sensitivity for investigating parity- and time-reversal-violation effects5,6. Radium monofluoride, RaF, is of particular interest because it is predicted to have an electronic structure appropriate for laser cooling6, thus paving the way for its use in high-precision spectroscopic studies. Furthermore, the effects of symmetry-violating nuclear moments are strongly enhanced5,7-9 in molecules containing octupole-deformed radium isotopes10,11. However, the study of RaF has been impeded by the lack of stable isotopes of radium. Here we present an experimental approach to studying short-lived radioactive molecules, which allows us to measure molecules with lifetimes of just tens of milliseconds. Energetically low-lying electronic states were measured for different isotopically pure RaF molecules using collinear resonance ionisation at the ISOLDE ion-beam facility at CERN. Our results provide evidence of the existence of a suitable laser-cooling scheme for these molecules and represent a key step towards high-precision studies in these systems. Our findings will enable further studies of short-lived radioactive molecules for fundamental physics research.
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BACKGROUND: Pelvic ring injuries are serious injuries, often associated with substantial morbidity and mortality rates. The long-term consequences of these injuries might affect the patients' personal life. Our aim was to assess the long-term effects of pelvic ring injuries on physical functioning and quality of life (QoL) using validated patient-reported outcome measures (PROMs) and comparing these results to normative data from the general population. PATIENTS AND METHODS: A retrospective cohort study was conducted on adults treated for pelvic ring injuries between 2007 and 2016. Demographics, fracture type, injury mechanism, treatment and complications were recorded. PROMs questionnaires concerning physical functioning (SMFA) and quality of life (EQ-5D) were used. Patients were divided according to their age (18-30, 31-64, 65 and older) and fracture type (Tile/AO type A, B or C). Differences in SMFA and EQ-5D scores of the operatively and non-operatively treated patients and between the study population and general population were analyzed. RESULTS: A total of 413 patients were identified of which 279 were eligible for follow-up. One-hundred and ninety-two (69%) patients responded with a mean follow-up of 4.4 years. Patients reported a median score of 13.9 on the SMFA function index, 16.7 on the bother index, 12.5 on the lower extremity, 18.8 on the activities of daily living and 23.4 on the emotion subscale. A median EQ-5D score of 0.8 was reported. There was no difference in physical functioning and QoL between operatively and non-operatively treated patients. Comparison of these results to normative data of the general population revealed a significant (P < 0.05) decrease in physical functioning and QoL in patients with all types of pelvic ring injuries. CONCLUSION: Long-term physical functioning and QoL in patients who had sustained a pelvic ring injury seems fair, although significantly decreased in comparison with their peers from the general population.
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Fraturas Ósseas , Ossos Pélvicos/lesões , Qualidade de Vida , Adulto , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/terapia , Humanos , Estudos RetrospectivosRESUMO
BACKGROUND: Palliative sedation (PS) serves as a therapeutic option in cases of otherwise intractable suffering. As the use of sedative and hypnotic medication in many diverse situations is a core competency of anesthesiology, anesthesiologists are confronted with questions of sedative therapy at the end of life in institutions for specialized palliative care, in intensive care units and intermediate care wards. In recent years a number of guidelines have been published internationally but so far no official guidelines exist in Germany. The most recognized document is the European Association for Palliative Care (EAPC) framework on PS. This project aims to develop a German language template for the preparation, application, documentation and evaluation of PS according to the current frameworks, especially the EAPC framework on PS. METHODS: A first draft of the template was generated by the project team using the EAPC framework and individual templates of various institutions, which had been collected during a previous project. Professionals (nâ¯= 136) from inpatient and outpatient specialist palliative and hospice care were invited to assess all items of the draft regarding "relevance", "wording" and "feasibility" in an online Delphi survey (Unipark®, Questback, Cologne, Germany). After the second Delphi round an expert panel was asked to reflect the results and generate a final draft. Approval was granted if acceptance exceeded 75% of participants. RESULTS: The 3 rounds of the Delphi process were completed by 64, 46 and 41 participants, respectively. The Delphi process as well as the expert panel led to significant changes of the template. The indications for PS had to be clarified. The significance of documentation of vital parameters, such as oxygen saturation, blood pressure or respiratory rate during PS was intensively discussed. In many teams, predominantly hospice or outpatient palliative care teams, it seems to be difficult to measure these parameters or it is regarded as inappropriate in a palliative care setting. In contrast, the EAPC framework recommends monitoring of vital parameters in cases of intermittent or respite sedation. Finally, a solution was found to support documentation of additional data without the explicit mentioning of specific parameters. After the third Delphi round, all 16 items of the documentation template reached consensus with respect to relevance (82.9-100%), clarity of wording (80.5-100%), and feasibility in practice (78-100%). CONCLUSION: This article provides an empirically based, multiprofessional consented documentation template for PS. Core elements of the documentation of PS are the indications and the decision process towards PS. During the treatment, at least the level of sedation and the symptom burden have to be recorded. The documentation of vital signs during PS remains a highly disputed topic. The presented data suggest that especially in outpatient settings and in hospices measuring and documentation of vital parameters is uncommon and therefore is often regarded as not feasible. This template can help to support the medically and ethically sound use of PS and facilitate research. The template can be accessed at http://www.palliativmedizin.uk-erlangen.de/forschung/downloads/ .
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Sedação Profunda/normas , Documentação/normas , Guias como Assunto , Cuidados Paliativos/normas , Anestesia , Consenso , Tomada de Decisões , Atenção à Saúde , Alemanha , Humanos , Idioma , Inquéritos e QuestionáriosRESUMO
INTRODUCTION: White blood cell (WBC) scintigraphy for diagnosing fracture-related infections (FRIs) has only been investigated in small patient series. Aims of this study were (1) to establish the accuracy of WBC scintigraphy for diagnosing FRIs, and (2) to investigate whether the duration of the time interval between surgery and WBC scintigraphy influences its accuracy. PATIENTS AND METHODS: 192 consecutive WBC scintigraphies with 99mTc-HMPAO-labelled autologous leucocytes performed for suspected peripheral FRI were included. The golden standard was based on the outcome of microbiological investigation in case of surgery, or - when these were not available - on clinical follow-up of at least six months. The discriminative ability of the imaging modalities was quantified by several measures of diagnostic accuracy. A multivariable logistic regression analysis was performed to identify predictive variables of a false-positive or false-negative WBC scintigraphy test result. RESULTS: WBC scintigraphy had a sensitivity of 0.79, a specificity of 0.97, a positive predicting value of 0.91, a negative predicting value of 0.93 and a diagnostic accuracy of 0.92 for detecting an FRI in the peripheral skeleton. The duration of the interval between surgery and the WBC scintigraphy did not influence its diagnostic accuracy; neither did concomitant use of antibiotics or NSAIDs. There were 11 patients with a false-negative (FN) WBC scintigraphy, the majority of these patients (nâ¯=â¯9, 82%) suffered from an infected nonunion. Four patients had a false-positive (FP) WBC scintigraphy. CONCLUSIONS: WBC scintigraphy showed a high diagnostic accuracy (0.92) for detecting FRIs in the peripheral skeleton. Duration of the time interval between surgery for the initial injury and the WBC did not influence the results which indicate that WBC scintigraphy is accurate shortly after surgery.
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Doenças Ósseas Infecciosas/diagnóstico por imagem , Fixação de Fratura , Fraturas Ósseas/cirurgia , Leucócitos/fisiologia , Complicações Pós-Operatórias/diagnóstico por imagem , Cintilografia , Infecções dos Tecidos Moles/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Ósseas Infecciosas/microbiologia , Feminino , Fixação de Fratura/efeitos adversos , Humanos , Interpretação de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/microbiologia , Compostos Radiofarmacêuticos/uso terapêutico , Estudos Retrospectivos , Sensibilidade e Especificidade , Infecções dos Tecidos Moles/microbiologia , Tecnécio Tc 99m Exametazima/uso terapêutico , Adulto JovemRESUMO
INTRODUCTION: Posttraumatic osteomyelitis (PTO) is a feared complication after surgical fracture care. Late diagnosis can result in interrupted and prolonged rehabilitation programmes, inability to work, medical dependency, unnecessary hospital admissions, and high medical and non-medical costs. Primary aim of this study was to assess preferred diagnostic imaging strategies for diagnosing PTO amongst orthopaedic and trauma surgeons, radiologists, and nuclear medicine physicians. Secondary aims were to determine the preferred serum inflammatory marker for diagnosing PTO and the existence of a local hospital protocol to diagnose and manage PTO. MATERIALS AND METHODS: This study utilised an online survey based on four clinical scenarios, varying from early to late onset of PTO. It was designed to assess individual practitioners' current preferred diagnostic strategy for diagnosing PTO. Eligible study participants were medical specialists and registrars in orthopaedic and trauma surgery, musculoskeletal (MSK) radiology, and nuclear medicine. RESULTS: There were 346 responders: 155 trauma surgeons, 102 orthopaedic surgeons, 57 nuclear medicine physicians, and 33 MSK radiologists. Trauma surgeons favour FDG-PET to image PTO, while orthopaedic surgeons prefer WBC scintigraphy. A similar difference was seen between radiologists and nuclear medicine physicians (MRI versus nuclear medicine imaging). CRP was regarded as the most useful serum inflammatory marker. Only one-third of all responders was aware of a local hospital protocol for the treatment of osteomyelitis. CONCLUSIONS: The availability of and awareness towards local protocols to diagnose and treat PTO is poor. The results of this study support the need for future randomised controlled trials on optimal diagnostic strategies for PTO.
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Fraturas Ósseas/cirurgia , Osteomielite/diagnóstico por imagem , Complicações Pós-Operatórias/diagnóstico por imagem , Padrões de Prática Médica/estatística & dados numéricos , Adulto , Biomarcadores/sangue , Consenso , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos , Osteomielite/sangue , Complicações Pós-Operatórias/sangue , Especialização , Inquéritos e QuestionáriosRESUMO
PURPOSE: Surgery for hip fractures is frequently followed by complications that hinder the rehabilitation of patients. The aim of this study was to describe the incidence rate and type of complications, including mortality, after hip fracture surgery, and to identify the risk factors of these complications that may be amenable to prevention. METHODS: Prospective cohort study of all consecutive patients aged ≥60 treated for a hip fracture at University Medical Center Groningen between July 2009 and June 2013. All patients were treated in a comprehensive multidisciplinary care pathway. Logistic regression analyses were used to investigate which variables were significant risk factors for the occurrence of complications. Additional analyses were conducted to investigate whether the independent variables were significant risk factors for several specific complications and mortality. RESULTS: The study population consisted of 479 patients with a mean age of 78.4 (SD 9.5) years; 33% were men. The overall complication rate was 75%. Delirium was the complication seen most frequently (19%); the incidence of surgical complications was 9%. Most risk factors for complications were not preventable (high comorbidity rate, high age and dependent living situation). However, general anesthesia (OR 1.51; 95% CI 0.97-2.35) and delay in surgery (OR 3.16; 95% CI 1.43-6.97) may be risk factors that can potentially be prevented. Overall, the mortality risk was not higher in patients with a complication, but delirium and pneumonia were risk factors for mortality. CONCLUSION: The overall complication rate after hip fracture surgery was high. Only few complications were potentially preventable.
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Fraturas do Quadril/cirurgia , Complicações Pós-Operatórias/prevenção & controle , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Feminino , Idoso Fragilizado , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/mortalidade , Estudos Prospectivos , Fatores de RiscoRESUMO
An innovative procedure for the development of 3D patient-specific implants with drilling guides for acetabular fracture surgery is presented. By using CT data and 3D surgical planning software, a virtual model of the fractured pelvis was created. During this process the fracture was virtually reduced. Based on the reduced fracture model, patient-specific titanium plates including polyamide drilling guides were designed, 3D printed and milled for intra-operative use. One of the advantages of this procedure is that the personalised plates could be tailored to both the shape of the pelvis and the type of fracture. The optimal screw directions and sizes were predetermined in the 3D model. The virtual plan was translated towards the surgical procedure by using the surgical guides and patient-specific osteosynthesis. Besides the description of the newly developed multi-disciplinary workflow, a clinical case example is presented to demonstrate that this technique is feasible and promising for the operative treatment of complex acetabular fractures.
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Acetábulo/diagnóstico por imagem , Placas Ósseas , Fixação Interna de Fraturas/instrumentação , Fraturas Ósseas/diagnóstico por imagem , Imageamento Tridimensional , Cuidados Pré-Operatórios/instrumentação , Cirurgia Assistida por Computador , Acetábulo/lesões , Parafusos Ósseos , Fixação Interna de Fraturas/métodos , Fraturas Ósseas/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
OBJECTIVE: Analysing injury types, injury severity and mortality in victims of accidents with electric bicycles in comparison with conventional bicycles. DESIGN: Prospective cohort study. METHOD: Data of patients treated at the Accident & Emergency Department of the University Medical Center Groningen after a bicycle accident are being entered in a database since 2014. We have analysed this database for accidents with electric bicycles (e-bikes) and conventional bicycles occurring among adult patients for the period of July 2014 to May 2016. 'Propensity score matching' was used to match e-bikers to conventional cyclists, based on age, gender and the presence of comorbidities. RESULTS: 107 of the 475 included victims were riding an e-bike. Average age of e-bikers and conventional cyclists was 65 years and 39 years respectively. Comorbidity was more common in e-bikers. E-bikers were injured significantly more severely than conventional cyclists. They had more severe injuries of the head and face, and upper and lower extremities. E-bikers were also admitted to the hospital more often, and for longer periods, and they underwent surgery more often. Mortality was the same. Propensity score matching revealed that e-bikers had multiple severe injuries (ISS > 15) twice as often as conventional cyclists, that they had more severe head injuries and were admitted for longer periods than conventional cyclists. CONCLUSION: E-bikers who had a bicycle accident had more severe injuries, more frequently had multiple injuries and had more severe head injuries than conventional cyclists. This resulted in a greater need for care. Preventive measures such as riding lessons and helmet use should be encouraged. Care providers should pay extra attention to the possibility of severe injuries when a patient had a bicycle accident with an e-bike.
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Acidentes de Trânsito , Ciclismo , Traumatismos Craniocerebrais/epidemiologia , Ferimentos e Lesões/epidemiologia , Adulto , Fatores Etários , Idoso , Traumatismos Craniocerebrais/patologia , Dispositivos de Proteção da Cabeça , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Ferimentos e Lesões/patologiaRESUMO
Resonant laser ionization and spectroscopy are widely used techniques at radioactive ion beam facilities to produce pure beams of exotic nuclei and measure the shape, size, spin and electromagnetic multipole moments of these nuclei. However, in such measurements it is difficult to combine a high efficiency with a high spectral resolution. Here we demonstrate the on-line application of atomic laser ionization spectroscopy in a supersonic gas jet, a technique suited for high-precision studies of the ground- and isomeric-state properties of nuclei located at the extremes of stability. The technique is characterized in a measurement on actinium isotopes around the N=126 neutron shell closure. A significant improvement in the spectral resolution by more than one order of magnitude is achieved in these experiments without loss in efficiency.
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Artroplastia de Quadril , Fixação Interna de Fraturas/métodos , Fraturas do Quadril/cirurgia , Osteoporose/cirurgia , Fraturas por Osteoporose/cirurgia , Radiografia , Fraturas do Quadril/diagnóstico por imagem , Fraturas do Quadril/fisiopatologia , Fraturas do Quadril/reabilitação , Humanos , Anamnese/métodos , Osteoporose/complicações , Osteoporose/diagnóstico por imagem , Osteoporose/fisiopatologia , Fraturas por Osteoporose/diagnóstico por imagem , Fraturas por Osteoporose/fisiopatologia , Fraturas por Osteoporose/reabilitação , Qualidade de Vida , Fatores de RiscoRESUMO
Resonant Ionization Laser Ion Source (RILIS) is nowadays an important technique in many Radioactive Ion Beam (RIB) facilities for its reliability and ability to ionize efficiently and element selectively. Grand Accélérateur National d'Ions Lourds (GANIL) Ion Source using Electron Laser Excitation (GISELE) is an off-line test bench for RILIS developed to study a fully operational resonant laser ion source at GANIL facility. The ion source body has been designed as a modular system to investigate different experimental approaches by varying the design parameters, to develop the future on-line laser ion source. The aim of this project is to determine the best technical solution which combines high selectivity and ionization efficiency with small ion beam emittance and stable long term operation. Latest results concerning emittance and time profile development as a function of the temperature for different ion source versions will be presented.
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Cornelia de Lange syndrome (CdLS) and KBG syndrome are two distinct developmental pathologies sharing common features such as intellectual disability, psychomotor delay, and some craniofacial and limb abnormalities. Mutations in one of the five genes NIPBL, SMC1A, SMC3, HDAC8 or RAD21, were identified in at least 70% of the patients with CdLS. Consequently, additional causative genes, either unknown or responsible of partially merging entities, possibly account for the remaining 30% of the patients. In contrast, KBG has only been associated with mutations in ANKRD11. By exome sequencing we could identify heterozygous loss-of-function mutations in ANKRD11 in two patients with the clinical diagnosis of CdLS. Both patients show features reminiscent of CdLS such as characteristic facies as well as a small head circumference which is not described for KBG syndrome. Patient A, who carries the mutation in a mosaic state, is a 4-year-old girl with features reminiscent of CdLS. Patient B, a 15-year-old boy, shows a complex phenotype which resembled CdLS during infancy, but has developed to a more KBG overlapping phenotype during childhood. These findings point out the importance of screening ANKRD11 in young CdLS patients who were found to be negative for mutations in the five known CdLS genes.
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Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/genética , Exoma , Estudos de Associação Genética , Fenótipo , Proteínas Repressoras/genética , Adolescente , Pré-Escolar , Fácies , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , MasculinoRESUMO
OBJECTIVE/BACKGROUND: The objective was to examine trends in abdominal aortic and iliac aneurysm repairs in Norway from 2001 to 2013, and study regional variations and organizational developments in this type of vascular surgery. METHODS: This was a retrospective study on aortic and iliac aneurysm repairs using data from the Norwegian Patient Register. The vascular centers were categorized by yearly volume of repairs into small (<18), medium (18-49) and large (≥50). Incidence rates were assessed per 100,000 ≥ 60 years. The percentage of endovascular aneurysm repairs (EVAR) was calculated among the conducted repairs at the three categories of centers and the South-Eastern, Western, Central, and Northern Norway Regional Health Authority (NRHA). RESULTS: The national incidence rates of intact repairs per 100,000 ≥ 60 years increased from 57.4 to 65.7 (p < .01). Ruptured repairs decreased from 19.7 to 9.2 (p < .01). The rate of EVAR increased from 6.0 to 29.9 (p < .01) in intact and from 0.4 to 2.5 (p < .01) in ruptured repairs. The vascular centers were reduced from 25 to 16. The rate of EVAR was 27.1% (p < .01) higher at large centers and 7.9% (p < .03) higher at medium centers compared with small centers, and from 11.1% to 15.7% higher (p < .01) at the Central, Western, and Northern NRHA compared with the South-Eastern NRHA, which had the most centers (also in the large category). The national increase in intact EVAR from 10.6% to 43.3% was less compared with many other Western countries. CONCLUSION: During the study period the rates of intact repairs increased while the ruptured repairs decreased. EVAR was associated with centers performing high volumes of abdominal aortic and iliac aneurysm repairs and regional authorities organized with few centers.