1,023 research outputs found

    How pain affect real life of children and adults with achondroplasia: a systematic review

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    The clinical features of achondroplasia can cause acute self-limited pain that can develop into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease. We found that shoulder and knee pain is typically referred during infancy, while knee pain is generally referred around 5-6 years of age. The prevalence of general pain in adolescence can be as high as 90%. Chronic pain in the achondroplasia population increases with age, with up to 70% of adults reporting general pain and back pain. Recognizing the multiple determinants of acute and chronic pain in patients with achondroplasia may enable physicians to better understand and manage this burden, particularly with the advent of new drugs that may modify some of the known features of achondroplasia

    What to expect of feeding abilities and nutritional aspects in achondroplasia patients: a narrative review

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    Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 (FGFR3) gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia. Along with growth, the optimal development of feeding skills may be affected by variable interactions between midface hypoplasia, sleep apnea disturbance, and structural anomalies. Anterior open bite, prognathic mandible, retrognathic maxilla, and relative macroglossia may adversely impact masticatory and respiratory functions. Independence during mealtimes in achondroplasia is usually achieved later than peers. Early supervision of nutritional intake should proceed into adolescence and adulthood because of the increased risk of obesity and respiratory problems and their resulting sequelae. Due to the multisystem involvement, oral motor dysfunction, nutrition, and gastrointestinal issues require special attention and personalized management to facilitate optimal outcomes, especially because of the novel therapeutic options in achondroplasia, which could alter the progression of this rare disease

    New detection systems for an enhanced sensitivity in key stellar (n,ő≥) measurements

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    Neutron capture cross-section measurements are fundamental in the study of astrophysical phenomena, such as the slow neutron capture (s-) process of nucleosynthesis operating in red-giant and massive stars. However, neutron capture measurements via the time-of-flight (TOF) technique on key s-process nuclei are often challenging. Difficulties arise from the limited mass (‚ąľmg) available and the high sample-related background in the case of the unstable s-process branching points. Measurements on neutron magic nuclei, that act as s-process bottlenecks, are affected by low (n,ő≥) cross sections and a dominant neutron scattering background. Overcoming these experimental challenges requires the combination of facilities with high instantaneous flux, such as n_TOFEAR2, with detection systems with an enhanced detection sensitivity and high counting rate capabilities. This contribution reviews some of the latest detector developments in detection systems for (n,ő≥) measurements at n_TOF, such as i-TED, an innovative detection system which exploits the Compton imaging technique to reduce the dominant neutron scattering background and s-TED, a highly segmented total energy detector intended for high flux facilities. The discussion will be illustrated with results of the first measurement of key the s-process branching-point reaction 79Se(n,ő≥).Title in Web of Science: New detection systems for an enhanced sensitivity in key stellar (n,gamma) measurements</p

    Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome

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    \ua9 The Author(s) 2023. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: [email protected]. BACKGROUND: The prognosis for Li-Fraumeni syndrome (LFS) patients with medulloblastoma (MB) is poor. Comprehensive clinical data for this patient group is lacking, challenging the development of novel therapeutic strategies. Here, we present clinical and molecular data on a retrospective cohort of pediatric LFS MB patients. METHODS: In this multinational, multicenter retrospective cohort study, LFS patients under 21 years with MB and class 5 or class 4 constitutional TP53 variants were included. TP53 mutation status, methylation subgroup, treatment, progression free- (PFS) and overall survival (OS), recurrence patterns, and incidence of subsequent neoplasms were evaluated. RESULTS: The study evaluated 47 LFS individuals diagnosed with MB, mainly classified as DNA methylation subgroup "SHH_3" (86%). The majority (74%) of constitutional TP53 variants represented missense variants. The 2- and 5-year (y-) PFS were 36% and 20%, and 2- and 5y-OS were 53% and 23%, respectively. Patients who received postoperative radiotherapy (RT) (2y-PFS: 44%, 2y-OS: 60%) or chemotherapy before RT (2y-PFS: 32%, 2y-OS: 48%) had significantly better clinical outcome then patients who were not treated with RT (2y-PFS: 0%, 2y-OS: 25%). Patients treated according to protocols including high-intensity chemotherapy and patients who received only maintenance-type chemotherapy showed similar outcomes (2y-PFS: 42% and 35%, 2y-OS: 68% and 53%, respectively). CONCLUSIONS: LFS MB patients have a dismal prognosis. In the presented cohort use of RT significantly increased survival rates, whereas chemotherapy intensity did not influence their clinical outcome. Prospective collection of clinical data and development of novel treatments are required to improve the outcome of LFS MB patients

    SARS-CoV-2 multi-antigen protein microarray for detailed characterization of antibody responses in COVID-19 patients.

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    Antibodies against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) target multiple epitopes on different domains of the spike protein, and other SARS-CoV-2 proteins. We developed a SARS-CoV-2 multi-antigen protein microarray with the nucleocapsid, spike and its domains (S1, S2), and variants with single (D614G, E484K, N501Y) or double substitutions (N501Y/Deletion69/70), allowing a more detailed high-throughput analysis of the antibody repertoire following infection. The assay was demonstrated to be reliable and comparable to ELISA. We analyzed antibodies from 18 COVID-19 patients and 12 recovered convalescent donors. The S IgG level was higher than N IgG in most of the COVID-19 patients, and the receptor-binding domain of S1 showed high reactivity, but no antibodies were detected against the heptad repeat domain 2 of S2. Furthermore, antibodies were detected against S variants with single and double substitutions in COVID-19 patients who were infected with SARS-CoV-2 early in the pandemic. Here we demonstrated that the SARS-CoV-2 multi-antigen protein microarray is a powerful tool for detailed characterization of antibody responses, with potential utility in understanding the disease progress and assessing current vaccines and therapies against evolving SARS-CoV-2

    High resolution

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    Neutron capture cross section measurements of isotopes close to s-process branching-points are of fundamental importance for the understanding of this nucleosynthesis mechanism through which about 50% of the elements heavier than iron are produced. We present in this contribution the results corresponding to the high resolution measurement, for first time ever, of the 80Se(n, ő≥) cross section, in which 98 resonances never measured before have been reported. As a consequence, ten times more precise values for the MACS have been obtained compared to previous accepted value adopted in the astrophysical KADoNiS data base

    Measurement of the 77Se(n,ő≥)^{77}Se ( n , ő≥ ) cross section up to 200 keV at the n_TOF facility at CERN

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    The 77Se(n,ő≥)^{77}Se ( n , ő≥ ) reaction is of importance for 77Se^{77}Se abundance during the slow neutron capture process in massive stars. We have performed a new measurement of the 77Se^{77}Se radiative neutron capture cross section at the Neutron Time-of-Flight facility at CERN. Resonance capture kernels were derived up to 51 keV and cross sections up to 200 keV. Maxwellian-averaged cross sections were calculated for stellar temperatures between kT=5¬†keVkT=5 \space keV and kT=100¬†keVkT=100\space keV, with uncertainties between 4.2% and 5.7%. Our results lead to substantial decreases of 14% and 19% in 77Se^{77}Se abundances produced through the slow neutron capture process in selected stellar models of 15M‚äô15M‚äô and 2M‚äô2M‚äô, respectively, compared to using previous recommendation of the cross section

    Measurement of the

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    The neutron capture cross section of 241Am is an important quantity for nuclear energy production and fuel cycle scenarios. Several measurements have been performed in recent years with the aim to reduce existing uncertainties in evaluated data. Two previous measurements, performed at the 185 m flight-path station EAR1 of the neutron time-of-flight facility n_TOF at CERN, have permitted to substantially extend the resolved resonance region, but suffered in the near-thermal energy range from the unfavorable signal-to-background ratio resulting from the combination of the high radioactivity of 241Am and the rather low thermal neutron flux. The here presented 241Am(n,ő≥) measurement, performed with C6D6 liquid scintillator gamma detectors at the 20 m flight-path station EAR2 of the n_TOF facility, took advantage of the much higher neutron flux. The current status of the analysis of the data, focussed on the low-energy region, will be described here

    Compton imaging for enhanced sensitivity (n,ő≥) cross section TOF experiments: Status and prospects

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    Radiative neutron-capture cross sections are of pivotal importance in many fields such as nucle-osynthesis studies or innovative reactor technologies. A large number of isotopes have been measured with high accuracy, but there are still a large number of relevant isotopes whose cross sections could not be experimentally determined yet, at least with sufficient accuracy and completeness, owing to limitations in detection techniques, sample production methods or in the facilities themselves. In the context of the HYMNS (High-sensitivitY Measurements of key stellar Nucleo-Synthesis reactions) project over the last six years we have developed a novel detection technique aimed at background suppression in radiative neutron-capture time-of-flight measurements. This new technique utilizes a complex detection set-up based on position-sensitive radiation-detectors deployed in a Compton-camera array configuration. The latter enables to implement gamma-ray imaging techniques, which help to disentangle true capture events arising from the sample under study and contaminant background events from the surroundings. A summary on the main developments is given in this contribution together with an update on recent experiments at CERN n_TOF and an outlook on future steps

    Measurement of the <math><mrow><mmultiscripts><mi>Se</mi><mprescripts/><none/><mn>77</mn></mmultiscripts><mo>(</mo><mi>n</mi><mo>,</mo><mi>ő≥</mi><mo>)</mo></mrow></math> cross section¬†up to 200 keV at the n_TOF facility at CERN

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    International audienceThe Se77(n,ő≥) reaction is of importance for Se77 abundance during the slow neutron capture process in massive stars. We have performed a new measurement of the Se77 radiative neutron capture cross section¬†at the Neutron Time-of-Flight facility at CERN. Resonance capture kernels were derived up to 51 keV and cross sections¬†up to 200 keV. Maxwellian-averaged cross sections¬†were calculated for stellar temperatures between kT=5keV and kT=100keV, with uncertainties between 4.2% and 5.7%. Our results lead to substantial decreases of 14% and 19% in Se77 abundances produced through the slow neutron capture process in selected stellar models of 15M‚äô and 2M‚äô, respectively, compared to using previous recommendation of the cross section
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