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Objectives: The MetabQoL 1.0 is the first disease-specific health related quality of life (HrQoL) questionnaire for patients with intoxication-type inherited metabolic disorders. Our aim was to assess the validity and reliability of the MetabQoL 1.0, and to investigate neuropsychiatric burden in our patient population. Methods: Data from 29 patients followed at a single center, aged between 8 and 18 years with the diagnosis of methylmalonic acidemia (MMA), propionic acidemia (PA) or isovaleric acidemia (IVA), and their parents were included. The Pediatric Quality of Life Inventory (PedsQoL) was used to evaluate the validity and reliability of MetabQoL 1.0.
Results: The MetabQoL 1.0 was shown to be valid and reliable (Cronbach's alpha: 0.64–0.9). Fourteen out of the 22 patients (63.6%) formally evaluated had neurological findings. Of note, 17 out of 20 patients (85%) had a psychiatric disorder when evaluated formally by a child and adolescent psychiatrist. The median mental scores of the MetabQoL 1.0 proxy report were significantly higher than those of the self report (p = 0.023). Patients with neonatal-onset disease had higher MetabQoL 1.0 proxy physical (p = 0.008), mental (p = 0.042), total scores (p = 0.022); and self report social (p = 0.007) and total scores (p = 0.043) than those with later onset disease.
Conclusions: This study continues to prove that the MetabQoL 1.0 is an effective tool to measure what matters in intoxication-type inherited metabolic disorders. Our results highlight the importance of clinical assessment complemented by patient reported outcomes which further expands the evaluation toolbox of inherited metabolic diseases.
Organic acidurias (OAs), urea-cycle disorders (UCDs), and maple syrup urine disease (MSUD) belong to the category of intoxication-type inborn errors of metabolism (IT-IEM). Liver transplantation (LTx) is increasingly utilized in IT-IEM. However, its impact has been mainly focused on clinical outcome measures and rarely on health-related quality of life (HRQoL). Aim of the study was to investigate the impact of LTx on HrQoL in IT-IEMs. This single center prospective study involved 32 patients (15 OA, 11 UCD, 6 MSUD; median age at LTx 3.0 years, range 0.8–26.0). HRQoL was assessed pre/post transplantation by PedsQL-General Module 4.0 and by MetabQoL 1.0, a specifically designed tool for IT-IEM. PedsQL highlighted significant post-LTx improvements in total and physical functioning in both patients' and parents' scores. According to age at transplantation (≤3 vs. >3 years), younger patients showed higher post-LTx scores on Physical (p = 0.03), Social (p < 0.001), and Total (p =0.007) functioning. MetabQoL confirmed significant post-LTx changes in Total and Physical functioning in both patients and parents scores (p ≤ 0.009). Differently from PedsQL, MetabQoL Mental (patients p = 0.013, parents p = 0.03) and Social scores (patients p = 0.02, parents p = 0.012) were significantly higher post-LTx. Significant improvements (p = 0.001–0.04) were also detected both in self- and proxy-reports for almost all MetabQoL subscales. This study shows the importance of assessing the impact of transplantation on HrQoL, a meaningful outcome reflecting patients' wellbeing. LTx is associated with significant improvements of HrQol in both self- and parentreports. The comparison between PedsQL-GM and MetabQoL highlighted that MetabQoL demonstrated higher sensitivity in the assessment of diseasespecific domains than the generic PedsQL tool.
A Telecom optical fibers are still being the best transmission medium of digital data and analogue signals for long distance applications. Progress in integrated photonics enables development of photonic chips with new unique properties, circuits of the future, and overcomes current limits in information and communication technologies. The packaging of photonic chips is necessary for taking them out of research laboratories into real implementation in the information and communication technology applications. One important step of packaging is effective coupling of optical radiation between telecom optical fiber with ten microns core dimension and photonic chip optical waveguide with submicron dimensions. For complex photonic chips, it is necessary to couple not one optical fiber but several optical fibers, which are arranged in fiber arrays. In this case, it is necessary to use a 6D positioning system, which allows to optimally adjust the relative position of the photonic chip and the fiber arrays. After setting the optimal relative position of the photonic chip and the fiber array, the process of their fixation follows. One possibility of fixation is gluing with an adhesive in the optical path between the photonic chip and an array of optical fibers with a refractive index close to the refractive index of the optical fiber core. This paper is focused on the experimental test set-up for the temperature characterization of fiber array to photonics chip butt coupling at 1310 nm and 1550 nm wavelengths fixed themselves by UV adhesive in the optical path. The main aims of this works are selection of better adhesive from two types for gluing of photonic chip and fiber array in packaging process of photonics chips and validation of gluing process developing. The coupling and alignment of fiber arrays to photonics chip were done by automated active alignments system and they were fixed themselves by curable epoxy adhesive. Temperature changes of coupling insertion losses are measured and investigated for two different UV adhesives during three temperature cycles from -40 °C to 80 °C in climatic chamber according to Telcordia. Spectral dependence of insertion losses were measured and compared before and after three temperature cycles for 1530 nm to 1570 nm spectral range at room temperature.
This work was supported by the Slovak Research and Development Agency under the contracts APVV-17-0662 and SK-AT-20-0017 and by the COST Action “European Network for High Performance Integrated Microwave Photonics” (EUIMWP) CA16220.
Der Einsatz von Robotik im Pflegekontext wird kontrovers diskutiert und löst unterschiedliche Assoziationen aus. In diesem Beitrag stellen wir Ergebnisse aus einer schriftlichen Befragung bei Pflegekräften aus Deutschland vor. Es wird aufgezeigt, für welche Funktionen und Aufgaben sich Pflegekräfte den Einsatz von Roboter vorstellen können und wo gegensätzliche Einstellungen gegenüber Robotern bestehen. Ein Fallbeispiel illustriert ein mögliches Anwendungsfeld. Mit den reflexiven Fragen laden wir die:den Lesenden ein, sich selbst mit der Idee Roboter als Alltagshelfer für ältere Menschen auseinanderzusetzen.
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(2021)