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The trend of the global educational process aimed at developing a universal creative personality is leading young people to expand their professional spectrum. The study of the universal personality of a musical artist is a prominent issue in the context of socio-cultural changes in the life of modern society. The aim of the research is to study the specific and characteristic features of a creative personality as well as to clarify the aspects of the formation of a musician’s universal personality. This article uses the following scientific methods to study the issue of universal creative personality of a music student: description, analysis, synthesis, comparison, abstraction and generalisation. The paper highlights the issues of formation and development of the universality of the creative personality in the representatives of musical culture. The authors studied the functions of leading and auxiliary activities in the process of forming a musician’s creative personality in view of personal motivation. The work analyses and highlights the ways of forming and developing the creative aspects of a musician’s personality. This study also examines the typology of the universal creative personality, which resulted in the formation of the following types of musical personalities, in particular, the musician-master and the musician-creator and the differences between them. The article explores the structure and activity of the creative personality of a composer, performer, musicologist, teacher and public figure. The authors’ work can be a subject of further investigation by researchers and teachers who will study the topic of universal creative personality of music students.

Abstract Background Cystic fibrosis (CF) is the most common, life-threatening, autosomal-recessive disorder among Caucasians. To date, approximately 2000 mutations in the CFTR gene have been reported. Some of these mutations are very rare, and some represent individual sequence changes in the gene. The introduction of newborn screening (NBS) in high prevalence countries for CF has considerably changed the diagnosing of this metabolic disease. Currently, in most cases, a diagnosis is made based on NBS, including or expanded with DNA analysis and confirmed with sweat chloride tests, rather than waiting until the child has already developed signs and symptoms. However, in rare cases, NBS does not provide enough information to confirm or reject a CF diagnosis. Not only are there small groups of patients who have false-negative or false-positive NBS results, but there is also a growing number of patients with positive NBS results in whom results of sweat tests and genetic examinations do not provide definite conclusions. Despite all knowledge and modern diagnostic tools at our disposal, sometimes the clinical presentation is so inconclusive, that making a final diagnosis remains a challenge. Case presentation In this case report, we present a male infant of Polish origin, whose symptoms and laboratory findings (including metabolic acidosis) were strongly suggestive of metabolic disease other than cystic fibrosis. Newborn screening for CF was positive, but the first sweat test results were equivocal, and initial and extended molecular tests were negative. Finally, after considering broad differential diagnosis, introducing treatment specific for CF and excluding other metabolic diseases, a third expanded genetic test revealed the presence of a rare pathogenic mutation in both alleles of the CFTR gene: c.4035_4038dupCCTA (p.Ser1347ProfsX13). Conclusion Although CF is considered a monogenic disorder, the relationship between genotype and phenotype is very complex. The reported case shows the unusual presentation of the disease. The patient’s clinical symptoms and laboratory findings, in combination with molecular test results, provide useful information for further observing the genotype-phenotype correlations in cystic fibrosis.

Objective/Purpose. Evaluation of efficacy and safety of autologous adipose-derived regenerative cells (ADRCs) treatment in autoimmune refractory epilepsy. Patients. Six patients with proven or probable autoimmune refractory epilepsy (2 with Rasmussen encephalitis, 2 with antineuronal autoantibodies in serum, and 2 with possible FIRES) were included in the project with approval of the Bioethics Committee. Method. Intrathecal injection of autologous ADRC acquired through liposuction followed by enzymatic isolation was performed. The procedure was repeated 3 times every 3 months with each patient. Neurological status, brain MRI, cognitive function, and antiepileptic effect were monitored during 12 months. Results. Immediately after the procedure, all patients were in good condition. In some cases, transient mildly elevated body temperature, pain in regions of liposuction, and slight increasing number of seizures during 24 hours were observed. During the next months, some improvements in school, social functioning, and manual performance were observed in all patients. One patient has been seizure free up to the end of trial. In other patients, frequency of seizures was different: from reduced number to the lack of improvement (3-year follow-up). Conclusion. Autologous ADRC therapy may emerge as a promising option for some patients with autoimmune refractory epilepsy. Based on our trial and other clinical data, the therapy appears to be safe and feasible. Antiepileptic efficacy proved to be various; however, some abilities improved in all children. No signs of psychomotor regression were observed during the first year following the treatment.

Morpholino antisense knockdowns of ywhag and hip1 in zebrafish is explored to understand the contribution of Huntingtin-interacting protein 1 (HIP1) genes towards epilepsy and intellectual disabilities in the patients. The findings for the functional and proposed role of Hip1 protein in AMPA and NMDA tonotropic glutamate receptor trafficking could be applied to design drugs for improved seizure control and behavioral function.

Purpose: Brachytherapy is a great alternative for restrictive surgical procedures in facial cancers. Moreover, dose distribution is more beneficial compared with teleradiotherapy during treatment of lesions located on anatomical curves. However, repetitiveness of application is the main issue associated with using commercial applicators. The risk of its displacement is very unfavorable due to large dose gradients in brachytherapy. The aim of this study was to develop a process of preparation of applicators using 3D printing technology. Material and methods: In planning system, circular volumes near the nose, eye, and ear were determined on transverse layers of an anthropomorphic phantom. Next, boluses with a thickness of 5 mm and 10 mm were designed for each of the layers. Channels in the 10 mm bolus were designed in such a way to place the catheters into the layers. Prepared applicators were printed using polylactic acid (PLA) filament. Plans to irradiate the films for their calibration and plans for treatment prepared in the treatment planning system were conducted. A special phantom was created to calibrate the radiochromic films. Dose distribution around the designed applicators was measured in an anthropomorphic phantom using films within the layers of phantom. Comparison of doses was performed with two-dimensional gamma analysis using OmniPro I'mRT software. Results: The obtained results confirmed compliance of the planned and measured doses in 92%; the analysis of gamma parameter showed 1%/1 mm for acceptability level of 95%. Moreover, the initial dosimetric analysis for gamma criteria with 2%/2 mm showed compliance at 99%. Conclusions: The results of the present study confirm potential clinical usefulness of the applicators obtained with the use of 3D printing for brachytherapy. [ABSTRACT FROM AUTHOR]

Background: Cystic fibrosis (CF) is the most common, life-threatening, autosomal-recessive disorder among Caucasians. To date, approximately 2000 mutations in the CFTR gene have been reported. Some of these mutations are very rare, and some represent individual sequence changes in the gene. The introduction of newborn screening (NBS) in high prevalence countries for CF has considerably changed the diagnosing of this metabolic disease. Currently, in most cases, a diagnosis is made based on NBS, including or expanded with DNA analysis and confirmed with sweat chloride tests, rather than waiting until the child has already developed signs and symptoms. However, in rare cases, NBS does not provide enough information to confirm or reject a CF diagnosis. Not only are there small groups of patients who have false-negative or false-positive NBS results, but there is also a growing number of patients with positive NBS results in whom results of sweat tests and genetic examinations do not provide definite conclusions. Despite all knowledge and modern diagnostic tools at our disposal, sometimes the clinical presentation is so inconclusive, that making a final diagnosis remains a challenge.Case Presentation: In this case report, we present a male infant of Polish origin, whose symptoms and laboratory findings (including metabolic acidosis) were strongly suggestive of metabolic disease other than cystic fibrosis. Newborn screening for CF was positive, but the first sweat test results were equivocal, and initial and extended molecular tests were negative. Finally, after considering broad differential diagnosis, introducing treatment specific for CF and excluding other metabolic diseases, a third expanded genetic test revealed the presence of a rare pathogenic mutation in both alleles of the CFTR gene: c.4035_4038dupCCTA (p.Ser1347ProfsX13).Conclusion: Although CF is considered a monogenic disorder, the relationship between genotype and phenotype is very complex. The reported case shows the unusual presentation of the disease. The patient's clinical symptoms and laboratory findings, in combination with molecular test results, provide useful information for further observing the genotype-phenotype correlations in cystic fibrosis. [ABSTRACT FROM AUTHOR]

Objective/Purpose. Evaluation of efficacy and safety of autologous adipose-derived regenerative cells (ADRCs) treatment in autoimmune refractory epilepsy. Patients. Six patients with proven or probable autoimmune refractory epilepsy (2 with Rasmussen encephalitis, 2 with antineuronal autoantibodies in serum, and 2 with possible FIRES) were included in the project with approval of the Bioethics Committee. Method. Intrathecal injection of autologous ADRC acquired through liposuction followed by enzymatic isolation was performed. The procedure was repeated 3 times every 3 months with each patient. Neurological status, brain MRI, cognitive function, and antiepileptic effect were monitored during 12 months. Results. Immediately after the procedure, all patients were in good condition. In some cases, transient mildly elevated body temperature, pain in regions of liposuction, and slight increasing number of seizures during 24 hours were observed. During the next months, some improvements in school, social functioning, and manual performance were observed in all patients. One patient has been seizure free up to the end of trial. In other patients, frequency of seizures was different: from reduced number to the lack of improvement (3-year follow-up). Conclusion. Autologous ADRC therapy may emerge as a promising option for some patients with autoimmune refractory epilepsy. Based on our trial and other clinical data, the therapy appears to be safe and feasible. Antiepileptic efficacy proved to be various; however, some abilities improved in all children. No signs of psychomotor regression were observed during the first year following the treatment. [ABSTRACT FROM AUTHOR]

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders. Numerous genes linked to HSPs, overlapping phenotypes between HSP subtypes and other neurodegenerative disorders and the HSPs' dual mode of inheritance (both dominant and recessive) make the genetic diagnosis of HSPs complex and difficult. Out of the original HSP cohort comprising 306 index cases (familial and isolated) who had been tested according to "traditional workflow/guidelines" by Multiplex Ligation-dependent Probe Amplification (MLPA) and Sanger sequencing, 30 unrelated patients (all familial cases) with unsolved genetic diagnoses were tested using next-generation sequencing (NGS). One hundred thirty-two genes associated with spastic paraplegias, hereditary ataxias and related movement disorders were analysed using the Illumina TruSight™ One Sequencing Panel. The targeted NGS data showed pathogenic variants, likely pathogenic variants and those of uncertain significance (VUS) in the following genes: SPAST (spastin, SPG4), ATL1 (atlastin 1, SPG3), WASHC5 (SPG8), KIF5A (SPG10), KIF1A (SPG30), SPG11 (spatacsin), CYP27A1, SETX and ITPR1. Out of the nine genes mentioned above, three have not been directly associated with the HSP phenotype to date. Considering the phenotypic overlap and joint cellular pathways of the HSP, spinocerebellar ataxia (SCA) and amyotrophic lateral sclerosis (ALS) genes, our findings provide further evidence that common genetic testing may improve the diagnostics of movement disorders with a spectrum of ataxia-spasticity signs. [ABSTRACT FROM AUTHOR]

As directed by the American Recovery and Reinvestment Act of 2009, the U.S. Department of Transportation (DOT) created the Transportation Investment Generating Economic Recovery (TIGER) discretionary grant program for surface transportation infrastructure projects. TIGER used a multistep competitive application process to award surface transportation funds. TIGER applications were initially screened by U.S. DOT’s staff of technical and economic experts and the final awardees were selected by a Review Team of Modal Administrators and DOT Office of the secretary-level officials. The purpose of the research was to determine if the most deserving projects, based on an applicant’s benefit–cost analysis and the likelihood that benefits exceeded costs, were more likely to receive grant funding. We base the findings on pair-wise comparisons and on logistic regression models. Based on these analyses, we found that the outcome of the benefit–cost analysis (both quality and expected net benefits) was not a statistically significant factor. [ABSTRACT FROM PUBLISHER]

Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity and is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology is highly heterogeneous and can be either environmental or genetic. Disruption of any one of multiple biological processes, such as those underlying neurogenesis, cell cycle and division, DNA repair or transcription regulation, can result in microcephaly. This etiological heterogeneity manifests in a clinical variability and presents a major diagnostic and therapeutic challenge, leaving an unacceptably large proportion of over half of microcephaly patients without molecular diagnosis. To elucidate the clinical and genetic landscapes of congenital microcephaly, we sequenced the exomes of 191 clinically diagnosed patients with microcephaly as one of the features. We established a molecular basis for microcephaly in 71 patients (37%), and detected novel variants in five high confidence candidate genes previously unassociated with this condition. We report a large number of patients with mutations in tubulin-related genes in our cohort as well as higher incidence of pathogenic mutations in MCPH genes. Our study expands the phenotypic and genetic landscape of microcephaly, facilitating differential clinical diagnoses for disorders associated with most commonly disrupted genes in our cohort. [ABSTRACT FROM AUTHOR]

The article features Judy Sussman, recipient of the 2015 Regina Medal who is behind the books like "The One in the Middle Is the Green Kangaroo," "Iggie's House" and "Are You There God? It's Me, Margaret." Topics discussed include how her love for reading as a child influenced her writing skills, issues that are discussed in her books like obesity, divorce and adolescence and her work as a National Coalition Against Censorship member.

The article presents a brief biography of author Patricia Regina Giff, chair of the Regina Medal Committee and president of the Wisconsin Chapter of the Catholic Library Association (CLA) and 2014 Regina Medalist. It offers information on her family and educational background. The highlights of Giff's writing and teaching career are presented. A list of the books written by Giff is presented, including "Gingersnap," "Zigzag Zoom," and "Bears Beware."

The article announces the presentation of the 2014 Regina Medal to author Patricia Reilly Giff.