The conspicuous gamma-ray burst of 30 May 1996

The spectra of the majority of bursts exhibit a low-energy power law index, alpha, that is either a constant or becomes softer with time. However, in the burst of 30 May 1996 alpha becomes harder. Here we show that this behavior can be explained by a hybrid model consisting of a thermal and a non-thermal component. In this burst the power-law index of the non-thermal component changes drastically from s ~ -1.5 to s ~ -0.67 at approximately 5 seconds after the trigger, thereby revealing, at low energies, the thermal component with its hard Rayleigh-Jeans tail. This leads to the large alpha-values that are found if the Band function is fitted to the spectra. We suggest that the change in s could be due to a transition from fast to slow cooling of the electrons emitting in the BATSE range. This could be due to the fact that the magnetic field strength becomes weaker.Comment: Submitted to Il Nuovo Cimento (4th Workshop Gamma-Ray Bursts in the Afterglow Era, Rome, 18-22 October 2004

Simulation of prompt emission from GRBs with a photospheric component and its detectability by GLAST

The prompt emission from gamma-ray bursts (GRBs) still requires a physical explanation. Studies of time-resolved GRB spectra, observed in the keV-MeV range, show that a hybrid model consisting of two components, a photospheric and a non-thermal component, in many cases fits bright, single-pulsed bursts as well as, and in some instances even better than, the Band function. With an energy coverage from 8 keV up to 300 GeV, GLAST will give us an unprecedented opportunity to further investigate the nature of the prompt emission. In particular, it will give us the possibility to determine whether a photospheric component is the determining feature of the spectrum or not. Here we present a short study of the ability of GLAST to detect such a photospheric component in the sub-MeV range for typical bursts, using simulation tools developed within the GLAST science collaboration.Comment: 12 pages, 5 figures; submitted proceeding for GRB Symposium in Stockholm, Sweden : "Gamma-Ray Bursts: Prospects for GLAST

Randomised Controlled Trials in Diabetes Research : A Pathway to Interpreting Published Results

Altres ajuts: Ferrer, GluSense, Zealand, Eli Lilly and Company, Novartis, Sanofi, Medtronic, MSD, Sandoz, Abbott Diabetes Care, AstraZeneca España, Boehringer Ingelheim España, GSK, Roche España, Novo NordiskKey Summary Points: Randomised controlled trials (RCTs) remain the gold standard for direct treatment comparisons. However, interpreting the results of RCTs and making judgements about the quality of evidence and how results may be applicable to diabetes management can be difficult for healthcare practitioners (HCPs). In this article, a checklist of the points that we consider most important when reading and interpreting RCT publications is summarised, and may serve as useful guidance for HCPs

A Small Satellite Constellation for Monitoring of the Aurora

As part of the European Space Agency\u27s D3S (Distributed Space Weather Sensor System), a small satellite constellation is currently being designed by OHB Sweden which will observe space weather impacts in Earth\u27s vicinity by monitoring of the auroral oval. The primary objective of the Aurora mission is to observe the Aurora Borealis and Australis continuously and as complete as possible. The auroral emissions are the result of interactions of the Solar Wind and Coronal Mass Ejections with the Earth which drive the location and strength of electron precipitation on the ionosphere. Such observations will thereby allow the identification, characterization and nowcasting of geomagnetic storms and sub-storms. Observation of the auroral emissions is expected to enable improved and new services relevant for critical infrastructures such as communication, satellite navigation, satellite operation, aviation, transport, power network operation, and resource utilization. The core instruments of the Aurora mission are the optical and far UV wide-field imagers. Furthermore, a radiation monitor and a magnetometer are baselined as a secondary payload to monitor magnetic field dynamics and the radiation environment. The availability of additional resources for other payloads relevant for D3S is under investigation. To minimize the number of satellites, while ensuring continuous and guaranteed coverage of the auroral oval, a constellation of four satellites in MEO orbit is envisaged. Such orbit however poses significant challenges for small satellites in terms of accessibility, sustainability, and radiation dose. The heritage microsatellite platform from OHB Sweden, InnoSat (designed for LEO), will thus undergo several upgrades in terms of maneuverability, shielding, communication, and reliability. Of particular importance is the low latency requirement which may favor an Inter-Satellite Link. In a first step ESA is implementing a demonstrator mission that shall be launched in 2027 with the aim of optimizing the performance and preparing the operational satellite constellation considered for implementation in a second step. We will report about the status of the satellite design and the mission architecture

continuous glucose monitoring use and glucose variability in pre school children with type 1 diabetes

Abstract Aims The objective of this nationwide population-based cohort study was to evaluate the correlation between continuous glucose monitoring (CGM) use and glucose variability in pre-schoolers with type 1 diabetes. Methods We analysed data from the Slovenian National Registry. The primary endpoint was the difference in glucose variability between periods, during which participants were using CGM and periods, during which CGM was not used, over 5 years. Results A total of 40 children 5 days/week) was associated with a 0.4% [4.4 mmol/mol] reduction in glycated haemoglobin level (7.6% compared to 7.2%, p = 0.047). Conclusions Our results indicate that the use of CGM was associated with reduced glucose variability during a 5 year follow-up period among pre-schoolers with type 1 diabetes. Trial Registration Clinicaltrials.gov: NCT-03293082

High Prevalence of Germline CDKN2A Mutations in Slovenian Cutaneous Malignant Melanoma Families

Aim: To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families. Methods: From January 2001 till the end of 2003 we prospectively screened 19 individuals from 11 CMM families, as well as 3 children with CMM aged from 6 to 13 years, with a negative family history. Results: Five distinct mutations were detected in 5 out of 11 screened families (10/19 individuals) and a previously recognized polymorphism was detected in a single family. Detected mutations were functionally deleterious (T281A, G68A, G301T, G71C and IVS – 1g > a). No mutations could be detected in 3 children. Conclusions: The prevalence of CDKN2A mutations among Slovenian CMM families was high, indicating the need for genetic counseling

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive and X-linked SNHL. More than 60 genes are involved in the etiology of autosomal recessive non-syndromic hearing loss (ARNSHL) commonly manifesting as heterogeneous pre-lingual profound to severe non-progressive clinical phenotype. ILDR1-dependent ARNSHL (DFNB42, OMIM: # 609646) is a very rare sub-type of hearing disability, with unknown prevalence, caused by function-damaging genetic variants in ILDR1 gene reported in families of Middle-Eastern origin. ILDR1 (Immunoglobulin-Like Domain-containing Receptor 1) is involved in the development of semicircular canal, tricellular tight junction and auditory hair cells. An apparently non-consanguineous family of European ancestry with two affected siblings with profound progressive hearing loss characterized in their infancy and successfully treated with cochlear implants (CI) is presented. Genetic analysis of common ARNSHL genetic causes in the population of origin was negative, thus the next-generation sequencing (NGS) and family segregation analysis to identify underlying causative genetic variant was performed. Unexpectedly and atypical for the population of origin a homozygous non-sense variant ILDR1 c.942C > A (p.Cys314Ter) inherited from both heterozygous parents was identified in both patients. Contrary to the commonly reported phenotype, indices of a progressive hearing loss and potential compensatory mechanism of vestibular function were revealed with the analysis of clinical data. The utilization of NGS was demonstrated as an invaluable tool for the detection of atypical rare variants in diagnostics of unidentified hearing loss disorders

Vpliv pandemije covida-19 na vključevanje telemedicine v zdravstveni sistem: dejavniki, ki so to omogočili in kako lahko telemedicina koristi zdravstvu tudi po koncu pandemije

Prispevek nudi okviren pregled telemedicine in vpliv pandemije covida-19 na velik porast njene uporabe. Razprava se dotakne glavnih prednosti in slabosti telemedicine, predvsem ob izzivih zdravstvenega sistema med pandemijo covida-19. Opiše primere dobre praske posameznih specialističnih področij, ki so se bolje prilagodila na trenutne razmere pandemije, in predlaga, kaj vse bi se lahko iz podatkov, ki jih med uporabo telemedicine shranjujemo, naučili in jih uporabili pri nadaljnjem organiziranju zdravstvenega sistema

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

Dexamethasone; PrenatalDexametasona; PrenatalDexametasona; PrenatalObjective To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Design and methods A questionnaire was designed and distributed, including 17 questions collecting quantitative and qualitative data. Thirty-six medical centres from 14 European countries responded and 30 out of 36 centres were reference centres of the European Reference Network on Rare Endocrine Conditions, EndoERN. Results Pdex treatment is currently provided by 36% of the surveyed centres. The treatment is initiated by different specialties, that is paediatricians, endocrinologists, gynaecologists or geneticists. Regarding the starting point of Pdex, 23% stated to initiate therapy at 4–5 weeks postconception (wpc), 31% at 6 wpc and 46 % as early as pregnancy is confirmed and before 7 wpc at the latest. A dose of 20 µg/kg/day is used. Dose distribution among the centres varies from once to thrice daily. Prenatal diagnostics for treated cases are conducted in 72% of the responding centres. Cases treated per country and year vary between 0.5 and 8.25. Registries for long-term follow-up are only available at 46% of the centres that are using Pdex treatment. National registries are only available in Sweden and France. Conclusions This study reveals a high international variability and discrepancy in the use of Pdex treatment across Europe. It highlights the importance of a European cooperation initiative for a joint international prospective trial to establish evidence-based guidelines on prenatal diagnostics, treatment and follow-up of pregnancies at risk for CAH.This work was supported by the Deutsche Forschungsgemeinschaft (Heisenberg Professorship, 325768017 to N R and 314061271-TRR205 to N R and A H), the European Commission for funding EndoERN CHAFEA FPA grant no. 739527, the Eva Luise und Horst Köhler Stiftung & Else Kröner-Fresenius-Stiftung (2019_KollegSE.03 to H N) and the Stockholm County Council (Senior clinical research fellowship dnr RS 2019-1140 to S L), Stiftelsen Frimurare Barnhuset i Stockholm and Lisa and Johan Grönbergs Stiftelse