bluuebunny/crossref_metadata_2025_split huggingface dataset:
10 Jahre Gendiagnostikgesetz – wie kann die Vernichtungspflicht für Ergebnisse genetischer Analysen und Untersuchungen praktisch umgesetzt werden?
Authors: Heidemann Simone 
Published: December 2021

Zusammenfassung
Am 1. Februar 2020 wurde das Gendiagnostikgesetz (GenDG) 10 Jahre alt. Damit unterliegen jetzt erstmals Ergebnisse genetischer Analysen und Untersuchungen nicht nur der in der Medizin üblichen 10jährigen Aufbewahrungspflicht, sondern nach deren Ablauf auch der Pflicht zur umgehenden Vernichtung. Bereits bei Inkrafttreten des GenDG am 1. Februar 2010 warf die Vernichtungspflicht nach § 12 Fragen auf, die spätestens seit erstmaligem Ablauf der 10jährigen Aufbewahrungspflicht am 1. Februar 2020 dringend einer Klärung bedürfen. Sie betreffen nicht nur die praktische Umsetzung der Vernichtungspflicht, sondern auch deren Sinnhaftigkeit. Auch die Gendiagnostik-Kommission (GEKO) stellt in ihrem dritten Tätigkeitsbericht die Sinnhaftigkeit der Vernichtungspflicht aus verschiedenen Gründen in Frage und fordert, „den § 12 GenDG auf die Vernichtung von Ergebnissen genetischer Untersuchungen und Analysen zu beschränken, deren Mitteilung von den Betroffenen gemäß § 8 GenDG nicht gewünscht wird.“ (3. Tätigkeitsbericht der GEKO, Seite 39.) Solange jedoch § 12 GenDG in seiner jetzigen Fassung gilt, ist dessen Umsetzung für alle Beteiligten verpflichtend. Dabei sollten bestehende Ausnahmeregelungen großzügig in Anspruch genommen werden, um den Aufwand zu begrenzen und trotzdem den Zweck des Gesetzes zu erfüllen.
Insights into the genomics of affective disorders
Authors: Forstner Andreas J. , Hoffmann Per , Nöthen Markus M. , Cichon Sven 
Published: December 2021

Abstract
Affective disorders, or mood disorders, are a group of neuropsychiatric illnesses that are characterized by a disturbance of mood or affect. Most genetic research in this field to date has focused on bipolar disorder and major depression. Symptoms of major depression include a depressed mood, reduced energy, and a loss of interest and enjoyment. Bipolar disorder is characterized by the occurrence of (hypo)manic episodes, which generally alternate with periods of depression. Formal and molecular genetic studies have demonstrated that affective disorders are multifactorial diseases, in which both genetic and environmental factors contribute to disease development. Twin and family studies have generated heritability estimates of 58–85 % for bipolar disorder and 40 % for major depression.
Large genome-wide association studies have provided important insights into the genetics of affective disorders via the identification of a number of common genetic risk factors. Based on these studies, the estimated overall contribution of common variants to the phenotypic variability (single-nucleotide polymorphism [SNP]-based heritability) is 17–23 % for bipolar disorder and 9 % for major depression. Bioinformatic analyses suggest that the associated loci and implicated genes converge into specific pathways, including calcium signaling. Research suggests that rare copy number variants make a lower contribution to the development of affective disorders than to other psychiatric diseases, such as schizophrenia or the autism spectrum disorders, which would be compatible with their less pronounced negative impact on reproduction. However, the identification of rare sequence variants remains in its infancy, as available next-generation sequencing studies have been conducted in limited samples. Future research strategies will include the enlargement of genomic data sets via innovative recruitment strategies; functional analyses of known associated loci; and the development of new, etiologically based disease models. Researchers hope that deeper insights into the biological causes of affective disorders will eventually lead to improved diagnostics and disease prediction, as well as to the development of new preventative, diagnostic, and therapeutic strategies. Pharmacogenetics and the application of polygenic risk scores represent promising initial approaches to the future translation of genomic findings into psychiatric clinical practice.
Grundlagen und aktueller Stand des Neugeborenen-Screenings auf angeborene Störungen des Stoffwechsels, des Hormon- und Immunsystems in Deutschland
Authors: Nennstiel Uta , Tönnies Holger 
Published: December 2021

Zusammenfassung
Seit der Einführung des flächendeckenden Neugeborenen-Screenings auf Phenylketonurie Ende der 60er Jahre in Deutschland, ist die Anzahl der Zielerkrankungen im sogenannten erweiterten Neugeborenen-Screening (ENS) stetig gestiegen. Aufgrund neuer diagnostischer Möglichkeiten, sowie neuer therapeutischer Ansätze bei schweren, seltenen Erkrankungen z. B. des Stoffwechsels, wird die Anzahl der Zielkrankheiten absehbar weiter steigen. Diese werden, unter Berücksichtigung der im vorliegenden Beitrag beschriebenen Grundvoraussetzungen, entweder Teil des erweiterten Neugeborenen-Screenings oder als eigenständiges Screening Teil der Sekundärprävention in Deutschland sein. Dieser Beitrag soll einen Überblick über Grundlagen des etablierten Neugeborenen-Screenings liefern sowie Einblicke in die Voraussetzungen für die Einführung neuer Zielerkrankungen in das Neugeborenen-Screening in Deutschland ermöglichen.
Oral-History-Projekt Humangenetik: Historische Forschungsmethode zur Erhebung und Weiterverarbeitung narrativer Interviews
Authors: Söhner F. , Fangerau H. , Krischel M. 
Published: December 2021

ZusammenfassungZwischen 2016 und 2018 wurden mit 33 Personen Interviews zur Geschichte der Humangenetik in Deutschland zwischen 1970 und den 2000er Jahren geführt. 29 Interviewte stimmten einer wissenschaftlichen Analyse zu. Diese Interviews wurden mit den Methoden der qualitativen Inhaltsanalyse und der Grounded Theory ausgewertet. Im Zentrum dieses Beitrags steht die kritische Auseinandersetzung mit der Methode der Oral History und ihrer Anwendung auf die Humangenetik. Das Oral-History-Projekt konzentriert sich auf Fragen zu (1) biographischen Daten und Werdegang der Gesprächspartner*innen, (2) Entwicklung und Anwendung von diagnostischen und therapeutischen Techniken, (3) Etablierung und Ausbau der Institutionen der Humangenetik und (4) der Wahrnehmung der das Fach betreffenden gesellschaftlichen Debatten.
Physical analysis of TiO2 and bentonite nanocomposite as adsorbent materials
Authors: Bukit Nurdin , Ginting Eva Marlina , Frida Erna , Bukit Bunga Fisikanta 
Published: December 2021

Abstract
The research analyzed the physical properties of TiO2 and bentonite nanocomposite as adsorbent materials. The TiO2 synthesis method was carried out through a sol–gel process. Meanwhile the synthesis of bentonite was carried out by the ball mill, coprecipitation and addition of cetyltrimethylammonium bromide (CTAB) surfactant. X-ray diffraction nanocomposite characterization showed that the particle size was 17.13 nm. Fourier transform infrared analysis showed the required absorption peak in photocatalysis because the OH group can react with holes and prevent electron–hole pair recombination. The morphology of the nanocomposite showed the occurrence of TiO2 pillarization in bentonite. The results of the X-ray fluorescence nanocomposite showed that the content of TiO2 and SiO2 was 65.22 and 17.4%, respectively.
Preparing for a Career in Pediatric Hospital Medicine: A Needs Assessment and Recommendations for Individualized Curricula
Authors: Patel Shivani J. , Lynn Justin , Varghese Sarah , Sanders Rebecca Dean , Zwemer Eric , Seelbach E. Berry , Patra Kamakshya P. , Mirchandani Dipti R. , Griego Elena , Beck Jimmy 
Published: December 2021

OBJECTIVES
The individualized curriculum within residency programs allows residents to tailor their elective time toward future career goals and interests. Our objective was to identify experiences and activities that would foster resident interest and enhance preparation for a career in pediatric hospital medicine (PHM).

METHODS
Electronic surveys were distributed to pediatric hospitalists, PHM fellowship directors, and graduating PHM fellows. These stakeholders were asked to identify key experiences for residents to explore before entering fellowship or practice. Descriptive statistics and thematic analysis were performed on survey responses.

RESULTS
Forty-six percent of PHM fellows (16 of 35), 42% of pediatric hospitalists (149 of 356), and 58% of fellowship program directors (35 of 60) completed the survey. All 3 groups identified complex care as the most important clinical experience to gain in residency. Other highly valued clinical experiences included pain management, surgical comanagement, and palliative care. Lumbar puncture, electrocardiograph interpretation, and airway management were identified as essential procedural skills. Nonclinical experiences that were deemed important included quality improvement, development of teaching skills, and research methodology. All groups agreed that these recommendations should be supplemented with effective mentorship.

CONCLUSIONS
Identification of key clinical experiences, nonclinical activities, and mentorship for residents interested in PHM may assist with tailoring the individualized curriculum to personal career goals. Incorporating these suggested experiences can improve preparedness of residents entering PHM.
Conflicts between humans and crocodilians in urban areas across Brazil: a new approach to support management and conservation
Authors: Mascarenhas-Junior Paulo , Maffei Fábio , Muniz Fábio , Freitas-Filho Ricardo F. , Costa Gonçalves Portelinha Thiago , Campos Zilca , A. B. Bassetti Luís 
Published: December 2021

Crocodilian-human conflicts, caused especially by urban expansion and habitat destruction, have been considered one of the main threats to the conservation of these species worldwide. In Brazil, such conflicts have been documented with crocodilian species all over the country. This study identified 400 conflict events between humans and caimans within Brazilian cities between 2016 and 2021. Caiman latirostris (57.4%) was the most common species found in large urban centers in the Northeastern and Southeastern regions. Most of the encounters (N = 250) were registered in the rainy season and the rescues were mainly carried out by the environmental military police and fire brigades. The management protocols in the presence of crocodilians in urban areas have been outlined, to be carried out by the Municipal Environmental Secretariats to minimize animal stress and the risk of accidents in urban areas. The increasingly common interaction between humans and caimans in urban environments is an important alert to envisage best conducts for the coexistence between humans and crocodilians and shows the need to invest in public policies to mitigate the effects of cities on wildlife.
Relación entre algunas normas ISO en un modelo conceptual de gestión del conocimiento
Authors: Montoya-Quintero Diana Maria , Garcia-Marin Jonathan , Moreno-Jimenez Sonia Jackeline 
Published: December 2021

Este artículo, tiene como objetivo el diseño de un modelo de gestión conceptual para representar el acoplmiento que surge en la relación de algunas normas del Organismo Internacional de Normalización (ISO) y los modelos de Gestión del Conocimiento (GC), esto debido a la insuficiencia que manifiesta la Norma Tecnica Colombiana (NTC) ISO 30401 donde indican como la Gestión de la calidad, vista desde una perspectiva mecanicista, ya no es suficiente para dar una respuesta efectiva e integral a las demandas del entorno, esta NTC reconoce las habilidades blandas que se originan de la acción humana, y en ese sentido el conocimiento como un factor vital de los fenómenos económicos contemporáneos. Igualmente resalta esta norma, la deserción y la rotación del personal en la sociedad actual, que tiene serias implicaciones en la gestión del conocimiento. Para este estudio se tiene en cuenta una población empresarial de impacto en la ciudad de Medellín, donde se describe los Modelos de Gestión del Conocimiento (MGC) de estas, la aplicabilidad, he impacto en los procesos de producción y servicios a la medida que proponen normas de calidad a su proceso. Se aplica una metodología propositiva y cualitativa a través de una investigación documental, que permite lograr la identificación de componentes conceptuales que son representados en el nuevo modelo, siendo un fin del modelo hacer parte cultural del diagnóstico para un plan de mejoramiento continuo en las organizaciones, particularmente aquellas empresas que aun no adoptan estas temáticas.
Hermansky–Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case
Authors: Zhurkova Natalia V. , Vashakmadze Nato D. , Suhanova Natella V. , Revunenekov Grigorii V. , Gordeeva Olga B. , Egorova Maria V. , Ovchinnikov Dmitriy S. , Kadyshev Vitaliy V. , Zhinchenko Rena A. , Namazova-Baranova Leyla S. 
Published: December 2021

Background. Hermansky–Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name. This disease occurs with hemorrhagic syndrome, oculocutaneous albinism, and inflammatory bowel diseases (in some cases). The clinical picture of the disease, including the gastrointestinal tract pathology, has not been studied completely due to the syndrome rarity.Clinical case description. We would like to present the description of clinical case of the patient with Hermansky–Pudlak syndrome type 6 accompanied with bowel vascular malformation. The patient diagnosed with “oculocutaneous albinism” at the age of 4.5 has shown recurrent intestinal bleedings, blood hemoglobin concentration decrease to 45 g/l; platelet count, mean platelet volume and platelet distribution width remained within the reference values. Slight decrease of Quick’s value to 68% (normal range 70–120%) was revealed. The study of platelet morphology has revealed a decrease in the number of dense granules: < 3 in 25% platelets, < 6 — in 64%. Ultrasound investigation has revealed signs of vascular malformation in ascending colon: significant changes of diameter (widening) and shape of intestinal wall vessels. Molecular genetic analysis (NGS) has revealed the nucleotide variant c.1133T>G (p.Leu378Arg) in homozygous state in the HPS6 gene. The same variant in homozygous state was revealed in the younger proband sister who also had vascular changes in the ascending colon wall.Conclusion. Differential diagnosis of Germanic–Pudlak syndrome type 6 should be performed with other types of this syndrome as well as with syndrome and non-syndrome forms of oculocutaneous albinism. Molecular genetic confirmation of the diagnosis is suggested via massive parallel sequencing (NGS) methods (exome sequencing included) due to the rarity of Hermansky–Pudlak syndrome.
Effect of Science Education Provided with Digital and in-Class Games on the Scientific Process Skills of Preschool Children
Authors: Yıldız Selin , Zengin Raşit 
Published: December 2021

In this research the effects of educational digital games and in-class educational games on scientific process skills of 6 years old children were investigated. The research was carried out with 70 preschool children who were educated in a primary school in Turkey. In the research, quasi-experimental design was used. Within the scope of the research, there are 3 groups including 2 experimental and 1 control groups. The educational digital games with the children in the Experiment I group were performed with in-class educational games with the children in the Experiment II group. The research covered a 10-week period. In order to test the hypotheses of the research, t test for the related samples, Wilcoxon Signed Sequence test, single factor ANOVA analysis for unrelated samples, Kruskal Wallis H-Test and Man Whitney U-Test were performed. According to the analysis results of the scientific process skill test scores of the groups after the application, it was found that there was no significant difference between experiment I and experiment II.. It was determined that there was a significant difference between the experiment I and experiment II groups and the control group, and this difference was in favor of the experimental groups.
Opinions of Secondary School Students on the Use of Mobile Augmented Reality Technology in Science Teaching
Authors: Keçeci Gonca , Yıldırım Pelin , Kırbağ Zengin Fikriye 
Published: December 2021

Mobile augmented reality (MAR) draws attention in terms of providing a flexible learning process and environment. It is thought that learning environments can be more effective using MAR technology. The research aimed to determine the secondary school students' views on the use of MAR technology in science teaching. The research was conducted with 143 students studying in the sixth grade at two different secondary schools in Turkey. In the research, convergent parallel patterns from mixed-method patterns were used. For eight weeks, the research was carried out to cover the systems unit in our body, situated in the 6th-grade science course curriculum. During the process, the Anatomy 4D application was used in the experimental group during the procedure, and the science course curriculum was used in the control group. In this paper, a part of the mixed research, the qualitative data collected from the experimental group's semi-structured interview form and diaries were analyzed. Descriptive analysis was used to analyze the data. As a result of the research, although the students do not have a clear idea about AR and MAR technologies at the beginning of the application, it is observed that their thoughts change over time, and MAR applications are effective on the success of the course.
Mathematical postprocessing analysis of contrast-enhanced computed tomography data of the kidneys in evaluation of split renal function in patients with kidney stone disease
Authors: Fiev D. N. , Khokhlachev S. B. , Borisov V. V. , Saenko V. S. , Chernenky M. M. , Proskura A. V. , Demidko Yu. L. , Puzakov K. B. , Korolev D. O. , Potoldikova N. V. , Inoyatov Zh. Sh. , Azilgareeva K. R. , Rapoport L. M. , Alyaev Yu. G. , Glybochko P. V. 
Published: December 2021

Introduction. An original research work was performed to assess split kidney function by glomerular filtration rate (GFR) with mathematical analysis of the kidneys computed tomography (CT) data in patients with kidney stone disease (KSD). Objective was to evaluate the GFR and the parenchyma structure of each kidney and identify the possible patterns of contrast medium intrarenal transport with mathematical analysis of the kidneys CT data in patients with KSD.Materials and methods. Data of 27 patients of both genders with KSD were retrospectively analyzed. To evaluate GFR separately for each kidney we analyzed the data of contrast-enhanced CT (GFR reference values are 0.55 % of contrast medium per second). Inclusion criteria are as follows: 1) newly diagnosed SKD; 2) stone size ≤1,5-2,0 cm, no obstruction of the urine flow registered; 3) no kidney or upper urinary tract surgical history; 4) age - ≤45 years; 5) no severe chronic diseases. All of these allowed to minimize influence of any other disorders on split renal function except for SKD and conduct per se research.Results. The mathematic analysis of the contrast-enhanced CT data revealed GFR changes in 26 (96.3 %) out of 27 patients. Hyperfiltration was found in 12 (44.4 %) patients: right kidney GFR - 0.6-0.77 %, mean value - 0.65 %; left kidney GFR - 0.59-0.79 %, mean value - 0.67 %. Hypofiltration was found in 13 (48.1 %) patients: right kidney GFR - 0.2-0.54 %, mean value - 0.37 %; left kidney GFR - 0.2-0.53 %, mean value - 0.4 %. The GFR values significantly differed between the groups both for the right (p = 0.000014) and left (p = 0.000045) kidneys. We found no significant age-related difference between the groups (p = 0.895). As well as that no significant differences in Resistance Index both in magistral (right kidney: p = 0.221; left kidney: p = 0.850) and segmental (right kidney: p = 0.306; left kidney: p = 0.957) arteries between the groups with hyperfiltration and hypofiltration were observed. One patient demonstrated no changes in GFR, and the other one had hyperfiltration (0,62 %) in one kidney and hypofiltration (0,48 %) in another.Conclusion. Most of the patients (92.6 %) with SKD demonstrate GFR changes (either hyperfiltration or hypofiltration) that may indicate the disturbed intrarenal blood and urine flow through the kidney.
Comparative Immunohistochemical Characteristics of Thalamic Glioarchitectonics of Young and Senile Persons
Authors: Balandin A. A. , Zheleznov L. M. , Balandina I. A. 
Published: December 2021

The aim of the investigation was to establish morphological differences between the human thalamus in young and senile age by using an immunohistochemical marker – glial fibrillary acidic protein (GFAP).Material and methods. The results of the sectional study of both thalami of 94 deceased of both sexes were analyzed. Depending on their age (young and senile), they were divided into two groups. The deceased had no history of diseases and injuries of the central and peripheral nervous system organs as well as alcohol and/or drug addiction, no macroscopic signs of brain tissue pathology were detected when material was taken for microscopic examination. Morphological characterization of thalamic tissue in both hemispheres of the large brain using hematoxylin and eosin staining was given. Immunohistochemical study of the samples used antibodies to GFAP.Results. Histological examination of the thalamus in both young and senile age revealed groups of irregularly arranged neuronal bodies with granular cytoplasm and swollen ectopic nuclei. When the immunohistochemical reaction was performed, the product of the reaction was distributed in the bodies and outgrowths of astrocytes. In young age, single bodies of fibrous astrocytes with a moderate number of poorly visualized outgrowths were found. At senile age, in addition to a statistically significant increase in the numerical density of fibrous astrocyte bodies (p<0.01), there is a clear increase in the number of their outgrowths.Conclusion. The results obtained provide a detailed insight into the morphological characteristics of the thalamic tissue of men and women at young and senile age. The use of antibodies to GFAP is a sensitive marker of age-related changes in thalamic cytoarchitectonics. The increase in the numerical density of astrocytes as well as the outgrowth of their processes allows a more precise understanding of age-related involution of nervous tissue, which will allow to use these data in future prospective basic research.