We present phenomenological study of the most minimal realistic SU(5) model that owns its predictivity solely to the gauge symmetry and the representational content. The model is built entirely out of the fields residing in the first five lowest dimensional representations that transform non-trivially under the SU(5) gauge group. It has eighteen real parameters and fourteen phases, all in all, to address experimental observables of the Standard Model fermions and accomplishes that via simultaneous use of three different mass generation mechanisms. Furthermore, it inextricably links the origin of the neutrino mass to the experimentally observed difference between the down-type quark and charged lepton masses. The main predictions of the model are that (i) the neutrinos are Majorana particles, (ii) one neutrino is massless, (iii) the neutrinos have normal mass ordering, and (iv) there are four new scalar multiplets at or below a 120TeV mass scale. A one-loop analysis demonstrates that an improvement of the current p→ πe partial lifetime limit by a factor of 2, 15, and 96 would require these four scalar multiplets to reside at or below the 100TeV, 10TeV, and 1TeV mass scales, respectively.

We report a case of recurrent painful and disabling granulomatous flexor tenosynovitis of the right wrist in 50-year-old female patient. The proper diagnosis was made ex juvantibus after repeated cultivation of Mycobacteria yielded negative results and local disease control was surgically unsuccessful. It was then decided to start at first with oral Clarithromycin at 500mg 2x daily during 6-month period throughout which there was no sign of local recurrence. However, synovectomy had to be performed 3 times in total during the period of two years. While the noninfectious causes were excluded, and infectious agent was not to be determined, the decision was made to administer full anti-tuberculosis medication therapy. At about the same time, we were finally able to obtain a positive Mycobacterium tuberculosis culture after a sudden onset of right axillary lymphadenitis, but only two and half years from the occurrence of first symptoms related to right wrist tenosynovitis.

Supplemental Digital Content is available in the text. Objectives: The investigation of auditory cognitive processes recently moved from strictly controlled, trial-based paradigms toward the presentation of continuous speech. This also allows the investigation of listening effort on larger time scales (i.e., sustained listening effort). Here, we investigated the modulation of sustained listening effort by a noise reduction algorithm as applied in hearing aids in a listening scenario with noisy continuous speech. The investigated directional noise reduction algorithm mainly suppresses noise from the background. Design: We recorded the pupil size and the EEG in 22 participants with hearing loss who listened to audio news clips in the presence of background multi-talker babble noise. We estimated how noise reduction (off, on) and signal-to-noise ratio (SNR; +3 dB, +8 dB) affect pupil size and the power in the parietal EEG alpha band (i.e., parietal alpha power) as well as the behavioral performance. Results: Our results show that noise reduction reduces pupil size, while there was no significant effect of the SNR. It is important to note that we found interactions of SNR and noise reduction, which suggested that noise reduction reduces pupil size predominantly under the lower SNR. Parietal alpha power showed a similar yet nonsignificant pattern, with increased power under easier conditions. In line with the participants’ reports that one of the two presented talkers was more intelligible, we found a reduced pupil size, increased parietal alpha power, and better performance when people listened to the more intelligible talker. Conclusions: We show that the modulation of sustained listening effort (e.g., by hearing aid noise reduction) as indicated by pupil size and parietal alpha power can be studied under more ecologically valid conditions. Mainly concluded from pupil size, we demonstrate that hearing aid noise reduction lowers sustained listening effort. Our study approximates to real-world listening scenarios and evaluates the benefit of the signal processing as can be found in a modern hearing aid.

Com a evolucao da tecnologia, os meios eletronicos de contratacao se tornaram praticas comerciais usuais. No caso dos contratos bancarios realizados pelos consumidores diretamente no autoatendimento dos bancos, por exemplo, a apresentacao de telas, por vezes, e o unico meio pelo qual as instituicoes financeiras tem para comprovar contratacoes. Embora atualmente a tecnologia esteja extremamente avancada – inclusive com a implementacao de Inteligencia Artificial pelo Supremo Tribunal Federal – ainda muitos magistrados resistem em aceitar estas telas sistemicas como prova. O objetivo desta pesquisa e discutir o acolhimento de provas digitais em acoes judiciais, especialmente no direito bancario. Como metodologia de estudo sera utilizado metodo hermeneutico e bibliografico, com pesquisa das obras relacionadas ao tema objeto de estudo, e dedutivo. Como resultado da pesquisa demonstrou-se que a utilizacao de provas digitais bancarias e segura, pois a manipulacao de dados internos, alem de ilegais, podem gerar diversos danos com relacao a credibilidade das instituicoes financeiras, fato que, obviamente, nao e de interesse destas.

Introduction: Rapid-onset obesity, hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare syndrome beginning at 3-6 years of age with approximately 150 cases described. Additional features include eye abnormalities, neurobehavioral dysfunction and paraneoplastic tumors. The etiology of the complex phenotype remains unknown. Methods: This study aims to investigate the genetic landscape of this complex phenotype by whole exome sequencing (WES) and copy number variation (CNV) analysis. We recruited 33 families (27 trios, 1 duo and 5 singletons) with a proband with ROHHAD syndrome (Ize-Ludlow 2007, Pediatrics). WES of 89 individuals was performed at the Center for Mendelian Genomics, Broad Institute. The Illumina platform with a mean coverage of ~100X (> 90% targets 20x) and Infinium Global Screening Array BeadChip 24v1.0 were used. Results: This report includes 28 probands (female = 18, 64%) with rapid onset obesity (100%), hypoventilation (88%), hypothalamic dysfunction (69%), eye disorders (62%) and neurobehavioral abnormalities (76%). Neuroendocrine tumor, ganglioneuroblastoma, was present in 38% (n=13). No unifying causative single gene or CNV was identified, but a number of sequence variants are prioritized. ARNT2, which encodes for a helix-loop-helix transcription factor, plays a role in the development of the hypothalamic-pituitary axis, postnatal brain growth, and visual and renal function. The de novo monoallelic missense variant was found in a 14-year old white girl (BMIz +3.25) with extreme obesity and a neurobehavioral phenotype. OCRL1, a multi-domain protein involved in cytoskeleton-plasma membrane adhesion, endosomal trafficking and in primary cilium assembly. Mutations in this gene have also been known to cause Lowe syndrome. A hemizygous X-linked frameshift variant in a 5-year old white boy with extreme obesity (BMIz +5.48), central hypoventilation neurobehavioral dysfunction and ganglioneuroblastoma. A monoallelic missense variant in NSD1, a transcriptional intermediary factor acting as a histone methyltransferase, was identified in a 8-year old Hispanic girl with severe obesity (BMIz +2.91), neurobehavioral disorder, pituitary and eye dysfunction and ganglioneuroblastoma. NSD1 is known to cause Sotos and Beckwith-Wiedemann. Compound heterozygous variants in KIF7, a key component of the Hedgehog signaling pathway, were identified in a 14-year old white girl with severe obesity (BMIz +3.00), autistic behavior, pituitary dysfunction and central hypoventilation. This gene is known to cause autosomal recessive hydrolethalis and acroscallosal syndromes with mutations also noted in Bardet-Biedl, Meckel and Joubert syndromes. Conclusion: While no unifying genetic cause has been identified in ROHHAD syndrome, it is possible that the phenotype represents a collection of complex genetic syndromes.

Self‐rating scales are frequently used to screen for anxiety and depression in patients with irritable bowel syndrome (IBS). Different cutoff values are recommended in literature, and guidelines have suggested the use of other screening instruments over time. The aim of this study was to assess the correlation between the most commonly used psychological screening instruments for anxiety and depression in IBS and to compare custom cutoff scores for these instruments.

Replication is an important tool used to test and develop scientific theories. Areas of biomedical and psychological research have experienced a replication crisis, in which many published findings failed to replicate. Following this, many other scientific disciplines have been interested in the robustness of their own findings. This chapter examines replication in primate cognitive studies. First, it discusses the frequency and success of replication studies in primate cognition and explores the challenges researchers face when designing and interpreting replication studies across the wide range of research designs used across the field. Next, it discusses the type of research that can probe the robustness of published findings, especially when replication studies are difficult to perform. The chapter concludes with a discussion of different roles that replication can have in primate cognition research.

Replications are widely considered an essential tool to evaluate scientific claims. However, many fields have recently reported that replication rates are low and - when they are conducted - many findings do not successfully replicate. These circumstances have led to widespread debates about the value of replications for research quality, credibility of research findings, and factors contributing to current problems with replicability. This special issue brings together researchers from various areas within the field of animal behavior to offer their perspective on the status and value of replications in animal behavior science.

Societal importance and the quality of scientific research highly depend on the usefulness of the results of research for the societal and scientific community. The wish to allocate the funds to high-quali-ty research and to establish right criteria for scientific evaluation and academic career progression, make scientific criteria increasingly important to measure the quality of research and knowledge valorization. However, it is very difficult to apply the right criteria which can objectively assess scientific research. For many years, there has been a great interest in scientific ranking and evaluation of scientific journals, but also of sci-entific contribution of scientists. It is generally accepted that the IF (WoS) and the total number of citations of articles published in the journal, are the most relevant parameters of the journal's significance. However, the significance of a scientist and the value of their scientific production are much more complicated to evaluate and they cannot be directly reflected by the importance of the journals in which their articles are published. In this article, the authors describe and evaluate the most known scientific databases which are used in science. The majority of existing science metric systems, which evaluate the achievement of scientists are focused solely on the number of citations of their articles. For example, H-index, which is calculated as the lowest ranked ar-ticle which number of citations matches its ranking number, has considerable shortcoming because it does not take into account the individual contribution of each author and allows expanding author lists with authors whose contribution may be insignificant or none. Therefore, the authors propose Z-score, as a new science met-ric system, which takes into account the author's contribution to the scientific article and greatly remedy major discrepancies in evaluating scientific production of individual authors and institutions.

Focal epilepsy is one of the most frequent specific type of epilepsies, with 30% treatment-resistant patients. There are several directions researchers can follow to improve existing treatment of focal epilepsy: synthesis of new compounds with anticonvulsant activity, repurposing drugs approved for other indications, finding drugs targeted to specific genetic and biochemical defects that underlie focal epilepsy syndromes, development of viral vectors for specific gene therapy, creation of devices and methods for suppression of seizures by electrostimulation and development of methods to increase safety of epilepsy surgery. Improvement of efficacy and safety of current therapies is necessary, as well as developing targeted treatment of genetic epilepsy syndromes that will not only suppress seizures, but stop further epileptogenesis.