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Careful brain monitoring saves lives and is beneficial to patients' health. Nevertheless, Norway lacks guidelines for brain monitoring in hospitals.

Background Nusinersen is one of an increasing number of new, expensive orphan drugs to receive authorization. These drugs strain public healthcare budgets and challenge principles for resource allocation. Nusinersen was introduced in the Norwegian public healthcare system in 2018. A national expert group consisting of physicians was formed to oversee the introduction and continuation of treatment in light of specific start and stop criteria. Methods We have studied experiences within the expert group with a special emphasis on their application of the start and stop criteria, rationing of treatment, and experienced moral dilemmas. A research interview with six members of the national expert group was performed, then analysed with manifest content analysis. The analysis was supplemented with publically available sources on priority setting and the process leading up to the introduction of nusinersen and the establishment of the expert group. Results Sixty-six patients have received treatment within the first 25 months since the national expert group’s establishment. Treatment has not been discontinued for any patient. No patients under 18 years of age have been denied treatment, as those who were referred at this age were all deemed to fulfill the start criteria. The expert group has, however, increased geographical treatment equity and facilitated important cooperation at the national level. Furthermore, it has enhanced open and critical discussions of both medical issues and new ethical dilemmas. Conclusion Although facilitating equal access to treatment for SMA patients, the national expert group has not discontinued treatment for any patient. It is suggested that in order for clinicians to be able to ration care for individual patients, they require both adequate support and sufficient formal authority. Start and stop criteria need to be re-evaluated as more knowledge and experience are gained regarding the treatment. more...

Careful brain monitoring saves lives and is beneficial to patients' health. Nevertheless, Norway lacks guidelines for brain monitoring in hospitals.

The aim of this prospective study was to determine the frequency and composition of cerebral microemboli in a pediatric population, during transcatheter closure of patent ductus arteriosus (PDA). Multifrequency transcranial Doppler was used to monitor cerebral blood flow velocity (CBFV) and detect microembolic signals (MES) in the middle cerebral artery in 23 patients (median age 18 months). MES were automatically identified and differentiated according to composition; gaseous or solid. The procedure was divided into five periods: Arterial catheterization; venous catheterization; ductal catheterization; angiography; device placement and release. Timing of catheter manipulations and MES were registered and compared. MES were detected in all patients. The median number of signals was 7, (minimum 1, maximum 28). Over 95 % of all MES were gaseous. 11 % were detected during device placement while 64 % were detected during angiographic studies, significantly higher than during any other period (P more...

X-ray computed tomography has become a popular means for examining the interiors of meteorites and has been advocated for routine curation and for the examination of samples returned by missions. Here, we report the results of a blind test that indicate that CT imaging deposits a considerable radiation dose in a meteorite and seriously compromises its natural radiation record. Ten vials of the Bruderheim L6 chondrite were placed in CT imager and exposed to radiation levels typical for meteorite studies. Half were retained as controls. Their thermoluminescence (TL) properties were then measured in a blind test. Five of the samples had TL data unaltered from their original (~10 cps) while five had very strong signals (~20,000 cps). It was therefore very clear which samples had been in the CT scanner. For comparison, the natural TL signal from Antarctic meteorites is ~5000–50,000 cps. Using the methods developed for Antarctic meteorites, the apparent dose absorbed by the five test samples was calculated to be 83 ± 5 krad, comparable with the highest doses observed in Antarctic meteorites and freshly fallen meteorites. While these results do not preclude the use of CT scanners when scientifically justified, it should be remembered that the record of radiation exposure to ionizing radiations for the sample will be destroyed and that TL, or the related optically stimulated luminescence, are the primary modern techniques for radiation dosimetry. This is particularly important with irreplaceable samples, such as meteorite main masses, returned samples, and samples destined for archive. more...

The push to find alternatives to fossil fuels has driven research and consumption of biofuels. Recent actions in the United States have placed an emphasis on the use of renewable fuels for improved sustainability of government operations. In 2013, the United States Army Corps of Engineers (USACE) measured atmospheric emissions from two navigation vessels consuming three different fuel types and found that biofuels have the potential to lower atmospheric emissions. These fuels have widely different production processes, however, and a full life-cycle assessment is necessary to provide a complete picture of these biofuels. The goal of this study was to identify whether transitioning navigation vessels to operate on biodiesel would have the potential to lower human health and environmental impacts. This study focuses on the complete life cycle of these fuels in USACE marine vessels by employing a well-to-wheels life-cycle assessment comparing the impacts of a 100% soy-based biodiesel and an algal-based biodiesel blend to a conventional diesel. Overall, soybean-based biodiesel had lower impacts compared to algal-based biodiesel. Impacts from conventional diesel were generally lower than algal-based biodiesel, but impacts between conventional diesel and soybean-based biodiesel were mixed. While greenhouse gas emissions during the use phase were reduced for the biofuels (after considering only the non-biogenic fraction of carbon emission), a complete look at the life-cycle resulted in cases where emissions could be greater than conventional diesel. Biodiesel impacts depended greatly on modeling assumptions made in the life-cycle system boundaries and inventory such as allocation method and assumptions about feedstock growth and harvesting. Published 2015. This article is a U.S. Government work and is in the public domain in the USA. more...

We describe the case of a six year old boy with findings consistent with myotonia congenita: muscular hypertrophy, stiffness when commencing movements and typical warm-up signs. The most prominent symptom was myotonia of the eyelid muscles with apparent swelling around the eyes. Even though the pronounced warm-up phenomena in our patient suggested a chloride channel-associated myotonia congenita, the myotonia of his eyelid muscles indicated an involvement of sodium channels. Screening for mutations in the underlying CLCN1 gene was negative, however, in the SCN4A gene, we identified the missense mutation c.2108T>C; p.Leu703Pro for which there is strong evidence of pathogenicity because it arose de novo in the index patient. more...

Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI) transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant. more...

We describe an outbreak of diphtheria in Norway that occurred in 2008 and affected 3 unvaccinated family members. The epidemic caught the public health system off-guard on most levels; the diagnosis was distrusted due to its rarity, no diphtheria anti-toxin was available, and notification procedures were not rigorously followed. more...

Introduction: The aim of this prospective study was to determine the frequency and composition of cerebral microemboli in a paediatric population during transcatheter atrial septal defect closure. Methods: Multi-frequency transcranial Doppler was used to detect microembolic signals in the middle cerebral artery of 24 patients. Embolic signals were automatically identified and differentiated according to their composition, gaseous or solid. The procedure was divided into five periods: right cardiac catheterisation; left cardiac catheterisation; pulmonary angiography; balloon sizing; and device placement. Results: Microemboli were detected in all patients. The median number of signals was 63 and over 95% gaseous. The total number of microembolic signals detected during two periods – balloon sizing and sheath placement and device placement – was not significantly different (median: 18 and 25, respectively) but was significantly higher than each of the other three periods (pConclusion: This is the first study to investigate the timing and composition of cerebral microemboli in a paediatric population during cardiac catheterisation. Microembolic signals were related to specific catheter manipulations but were not associated with fluoroscopic time or duration of procedure. more...

In theory, the power of a trans-cranial Doppler signal may be used to measure changes in blood flow and vessel diameter in addition to velocity. In this study, a flow index (FI) of relative changes in blood flow was derived from frequency-weighted Doppler power signals. The FI, plotted against velocity, was calibrated to the zero intercept with absent flow to reduce the effects of non-uniform vessel insonation. An area index was also calculated. FIs were compared with actual flow in four silicone tubes of different diameter at increasing flow rates and increasing hematocrit (Hct) in a closed-loop phantom model. FI values were strongly correlated with actual flow, at constant Hct, but varied substantially with changes in Hct. Percentage changes in area indexes, relative to the 4-mm tube, were strongly correlated with tube cross-sectional area. The implications of these results for in vivo use are discussed. more...

Objective The last decade has seen the introduction of new technology which has transformed many aspects of our culture, commerce, communication and education. This study examined how medical teachers and learners are using mobile computing devices such as the iPhone in medical education and practice, and how they envision them being used in the future. Design Semistructured interviews were conducted with medical students, residents and faculty to examine participants’ attitudes about the current and future use of mobile computing devices in medical education and practice. A thematic approach was used to summarise ideas and concepts expressed, and to develop an online survey. A mixed methods approach was used to integrate qualitative and quantitative findings. Setting and participants Medical students, residents and faculty at a large Canadian medical school in 2011. Results Interviews were conducted with 18 participants (10 students, 7 residents and 1 faculty member). Only 213 participants responded to the online survey (76 students, 65 residents and 41 faculty members). Over 85% of participants reported using a mobile-computing device. The main uses described for mobile devices related to information management, communication and time management. Advantages identified were portability, flexibility, access to multimedia and the ability to look up information quickly. Challenges identified included: superficial learning, not understanding how to find good learning resources, distraction, inappropriate use and concerns about access and privacy. Both medical students and physicians expressed the view that the use of these devices in medical education and practice will increase in the future. Conclusions This new technology offers the potential to enhance learning and patient care, but also has potential problems associated with its use. It is important for leadership in medical schools and healthcare organisations to set the agenda in this rapidly developing area to maximise the benefits of this powerful new technology while avoiding unintended consequences. more...

Elevated Pb levels in humans through environmental exposure are a significant health concern requiring scientific study of the sources of, and physiological response to this toxin. This requires a simple and precise method for measuring radiogenic Pb isotopes and Pb levels in blood. Presented here is a combination of methods for separation and analysis of Pb previously used predominantly for geologic samples. This includes separation of Pb from the complex matrix of blood samples using an Fe co-precipitation method, followed by isotopic analysis by multi-collector inductively coupled plasma mass spectrometry. Evaluation of the efficacy of this procedure shows that the precision of sample preparations as measured by % difference between the (207)Pb/(206)Pb of duplicate analyses averages 0.064% (n = 48). Using the same preparation and analysis techniques to measure Pb concentrations by isotope dilution resulted in a reproducibility of better than 6%. The method was successfully used to measure uptake of ingested soil Pb in a study of the bioavailability of Pb in contaminated soils. more...

Myotonia means reduced ability to relax the muscles after contraction and is caused by various ion channel defects. Mutations in the chloride channel gene CLCN1 are found in Thomsen and Becker congenital myotonia. Mutations in the sodium channel gene SCN4A may give rise to paramyotonia congenita, hyperkalemic periodic paralysis or potassium-sensitive myotonia. Our patient is a seven year old boy with healthy, non-consanguineous parents. His psychomotor milestones were normal. He was admitted at the age of six because of episodes when one or both of his eye lids “fell down”. These episodes had become more prominent during the years. The episodes could be provoked by clapping hands just in front of his eyes or when he was suddenly scared in other ways. It was then difficult for him to re-open the eyes for several seconds. A waxing and waning swelling might also be seen below his eyes, possibly reflecting ongoing myotonia in the orbicularis oculi muscles. He sometimes used his fingers to get the eyes opened more quickly. It was also reported that when he started to walk after having been seated for some time, he often transiently felt stiff in his legs. It appeared that sometimes even his chewing and articulation might be impaired because of stiffness. The problems did not seem to be temperature sensitive. Episodes of paralysis were not reported. His shoulder muscles and the masseter muscle looked hypertrophic. EMG was consistent with extensive myotonia. Gene test for myotonic dystrophy was negative, and no mutation was found in the CLCN1 gene. However, an unclassified heterozygous mutation was detected in the SCN4A gene. Neither of the parents carried this mutation which is estimated as probably pathogenic. Classification of his phenotype will be discussed. more...