bluuebunny/crossref_metadata_2025_split huggingface dataset:
Changes in retinal structures as markers of multiple sclerosis progression
Authors: Poplyak M. O. , Trufanov A. G. , Temniy A. V. , Maltsev D. S. , Chakchir O. B. , Mikheev A. V. , Skulyabin D. I. , Bisaga G. N. , Litvinenko I. V. , Odinak M. M. 
Published: December 2021

The involvement of the visual pathway in multiple sclerosis (MS) pathology determines the importance of studying the structures of the retina for earlier diagnosis and monitoring the severity of the neurodegeneration. The introduction of the reference method of optical coherence tomography (OCT) allows high resolution in vivo visualization of the retinal structures.Objective: to identify changes in various retinal structures in remitting (RMS) and secondary-progressive (SPMS) MS phenotypes.Patients and methods. The study included 80 patients with RMS (n=48) and SPMS (n=32); the control group included 20 age- and sex-adjusted healthy individuals. Clinical assessment was carried out using the Expanded Disability Status Scale (EDSS) and the Multiple Sclerosis Severity Score (MSSS). All patients were examined by an ophthalmologist. To assess changes in the retina, OCT was performed using the RTVue XR Avanti apparatus (Optovue, USA).Results and discussion. We found a significant (p<0.001) decrease in the thickness of the retina of the foveal and parafoveal regions, the thickness of the ganglionic cell complex when comparing the parameters of the retina of the control group and patients with RMS. There was also a significant (p<0.01) decrease in the retinal thickness in the perifoveal region, the thickness of the layer of retinal nerve fibers, the magnitude of focal and global losses. During comparation of the retinal OCT data between patients with RMS and SPMS, we revealed significant differences (p<0.001) in the thickness of the retinal nerve fiber layer, the retinal thickness in the parafoveal and foveal regions, and a significant (p<0.01) decrease in the thickness of the peripheral region, the thickness of the ganglionic cell complex, the volume of focal and global losses. Assessment of the correlations of OCT parameters with the EDSS and MSSS scales in both phenotypes showed a single significant (p<0.05) strong negative correlation (r=-0.70) of the EDSS score and retinal thickness in the foveal region in patients with SPMS.Conclusion. As a domain of criteria for the MS course without signs of disease activity (No Evidence of Disease Activity, NEDA), it is advisable to use retinal OCT with analysis of the retinal thickness in the foveal region, the thickness of the retinal nerve fiber layer, the ganglion cell complex for dynamic monitoring of the inflammatory process activity in patients with RMS and assessment of its progression in patients with SPMS.
Delayed Puberty in Girls with Primary Amenorrhea: A Report of Cases
Authors: Shahab Fatinah , Mulyantoro Inu , Tjahjanto Hary , Winarni Tri Indah , Faradz Sultana MH 
Published: December 2021

Background:Female puberty starts when the pituitary hormone producing follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which will stimulate the ovaries to produce estrogen. Delayed puberty with primary amenorrhea in female is the lack of breast development followed by the absence of menses 3 years after the initiation of breast development. Sex chromosomes have an important role in determining the sex, germ cell differentiation of foetus, and reproductive functions of an offspring, thus, sex chromosomal aberrations frequently cause primary amenorrheaCase presentation: We report two delayed puberty cases with the chief complain of primary amenorrhea. Both cases showed hypoplasia of uterus and ovaries on pelvic imaging and hormonal assay showed low of FSH. The first case was gonadal dysgenesis with 46,XX karyotype and low level of estrogen and the second case was a turner syndrome with 45,X karyotype and normal level of estrogen. Conclusion:This study reported delayed puberty with primary amenorrhea cases due to different chromosomal aberration pattern which have similar clinical features. Therefore, cytogenetic examination is needed for any primary amenorrhea cases in order to accomplish the confirmatory diagnosis and for the clinicians to make a correct intervention and treatment.
Budownictwo sakralne w archidiecezji poznańskiej w latach 1945-1977
Authors: Wilczyński Leszek 
Published: December 2021

Powojenny rozwój urbanistyczny Wielkopolski spowodował luki w systemie sieci parafialnej Kościoła poznańskiego. Nie bez znaczenia dla poprawnego funkcjonowania archidiecezji były też zniszczenia świątyń, powstałe w czasie II wojny światowej. Niestety, polityka władz komunistycznych obliczona była na laicyzację społeczeństwa i spowodowanie możliwie największych utrudnień w rozwoju życia religijnego w Polsce. Archidiecezja poznańska – podobnie jak inne diecezje – w całym okresie Polski Ludowej musiała zmagać się z przeciwdziałaniem władz w zakresie budownictwa sakralnego.
Endoscopic confocal laser-microscopy for the intraoperative nerve recognition: is it feasible?
Authors: Ellebrecht David Benjamin , von Weihe Sönke 
Published: December 2021

Abstract
Surgeons lose most of their tactile tissue information during minimal invasive surgery and need an additional tool of intraoperative tissue recognition. Confocal laser microscopy (CLM) is a well-established method of tissue investigation. The objective of this study was to analyze the feasibility and diagnostic accuracy of CLM nervous tissue recognition. Images taken with an endoscopic CLM system of sympathetic ganglions, nerve fibers and pleural tissue were characterized in terms of specific signal-patterns ex-vivo. No fluorescent dye was used. Diagnostic accuracy of tissue classification was evaluated by newly trained observers (sensitivity, specificity, PPV, NPV and interobserver variability). Although CLM images showed low CLM image contrast, assessment of nerve tissue was feasible without any fluorescent dye. Sensitivity and specificity ranged between 0.73 and 0.9 and 0.55–1.0, respectively. PPVs were 0.71–1.0 and the NPV range was between 0.58 and 0.86. The overall interobserver variability was 0.36. The eCLM enables to evaluate nervous tissue and to distinguish between nerve fibers, ganglions and pleural tissue based on backscattered light. However, the low image contrast and the heterogeneity in correct tissue diagnosis and a fair interobserver variability indicate the limit of CLM imaging without any fluorescent dye.
Infection agents of Didelphidae (Didelphimorphia) of Brazil: an underestimated matter in zoonoses research
Authors: Bitencourt Matheus M. , Bezerra Alexandra M. R. 
Published: December 2021

Abstract
Zoonoses are diseases or infections naturally transmissible from vertebrate animals to humans, and can be bacterial, viral or parasitic. The growth of urbanization, industrialization and the advance of agriculture and livestock facilitate the spread of infectious and parasitic agents from wild animals to the human population and to their domestic animals. Among the various reservoirs of zoonotic agents, we find that didelphid species, due to their high capacity for adaptation in urban environments, as an important study case. We reviewed the literature data on the pathogens, including with zoonotic potential of marsupial species occurring in Brazil, accounted for infections by agents that we categorized into Bacteria, Viruses, Protozoa, and Helminths. Aiming identifies possible knowledge gaps, we also surveyed the origin of studied samples and the institutions leading the researches on host didelphids. Among the hosts, the genus Didelphis in the cycles of these agents stands out. Moreover, we found that the majority of reported cases are in the Southeastern Brazil, mean the data from other Brazilian localities and didelphid species could be underestimated. Most studies took place in graduate programs of public research institutions, emphasizing the importance of the funding public research for the Brazilian scientific development.
Advancing Charcot-Marie-Tooth disease diagnostics, through the UK 100,000 Genomes Project
Authors: Pipis Menelaos , Houlden Henry , Reilly Mary M. 
Published: December 2021

Abstract
Whole genome sequencing (WGS) is regarded by many as the pinnacle of contemporary molecular genetic testing, and has only been possible because of the rapid development and roll-out of next-generation sequencing technologies. It provides a phenotype-agnostic analysis of the genome and has important advantages compared to other techniques including a consistent coverage across the coding and non-coding genome, the application of high resolution homozygosity mapping and the ability to detect and highlight structural variation.
Realising this potential and with a bid to sequence 100,000 genomes, the UK rolled out the 100,000 Genomes Project as a proof of concept of integrating genomics in the national health service. Participants with cancer and rare diseases enrolled in the project whose infrastructure comprises of a central national biorepository and 13 regional genomic medicine centres where clinicians, geneticists and other scientists work as part of a multidisciplinary team. Amongst participants are also patients with genetically unclassified Charcot-Marie-Tooth disease who have benefited substantially from improved diagnostic rates and many more stand to benefit as the analysis of genomic data is ongoing.
WGS is an important tool as we head towards more personalised medicine and in our quest to improve public health and treat and where possible prevent disease.
Clinical spectrum and management of imprinting disorders
Authors: Elbracht Miriam , Binder Gerhard , Hiort Olaf , Kiewert Cordula , Kratz Christian , Eggermann Thomas 
Published: December 2021

Abstract
Imprinting disorders are exceptional within the group of monogenic syndromes. They are associated with molecular changes affecting imprinted regions and usually do not follow the rules of Mendelian inheritance. They account for a relevant proportion of congenital disorders, especially within the syndromal growth entities with endocrine, neurological, and skeletal characteristics. In patients with imprinting disorders and accelerated growth, significant tumor risks have to be considered. The number of known imprinting disorders increases with the identification of new regions in which parentally imprinted genes are located. Imprinting disorders are caused by genomic pathogenic variants affecting imprinted genes, as well as by aberrant imprinting marks (epimutations) in the patients themselves. Additionally, maternal effect mutations have recently been identified that trigger secondary epimutations in the offspring. These maternal effect mutations explain not only imprinting disorders in their children, but also recurrent reproductive failure in the families. This review aims to provide an overview of the recent findings in 13 well-known imprinting disorders relating to clinical diagnosis, management and counseling.
Die Humangenetische Beratung in der DDR
Authors: Doetz Susanne 
Published: December 2021

Zusammenfassung
In den letzten Jahren ist die Geschichte der humangenetischen Beratung zunehmend Gegenstand medizin- und wissenschaftsgeschichtlicher Forschungen geworden. In diesem Artikel untersuche ich anhand von Archivmaterial und medizinischer Fachliteratur der damaligen Zeit die Etablierung und Ausgestaltung der humangenetischen Beratung in der DDR von den 1960er Jahren bis zum Fall der Berliner Mauer 1989. Die Initiative zur Einrichtung eines humangenetischen Beratungsdienstes in der DDR startete in den 1960er Jahren und ging auf Wissenschaftler und Wissenschaftlerinnen zurück, die sich mit humangenetischen Problemen befassten, und in ihrer politischen Einstellung heterogen waren. In den 1970er und 80er Jahren wurde ein flächendeckendes Netz von humangenetischen Beratungsstellen geschaffen, die entweder an Universitätseinrichtungen oder an Bezirkskrankenhäusern angesiedelt waren. Trotz der zentralen Steuerung gab es einen beträchtlichen Unterschied zwischen den einzelnen Bezirken. In der DDR führten sowohl Biologen und Biologinnen als auch Ärzte und Ärztinnen humangenetische Beratungen durch. Mit ihrem Fokus auf einzelne Individuen bzw. Familien und ihrer Ablehnung jeglicher Art von Zwang setzten sich die Humangenetiker und Humangenetikerinnen von den eugenischen Praktiken der NS-Zeit ab. Dennoch ließen sie – wie auch in der BRD – populationsgenetische Zielsetzungen nicht völlig außer Acht. Auch in ihrer Zielsetzung – die Geburt behinderter Kinder zu verhindern und die Geburt gesunder Kinder zu fördern – unterschied sich die humangenetische Beratung in der DDR nicht von anderen, auch nicht-sozialistischen Staaten. Diese Absicht war nicht staatlich vorgeschrieben, sondern Ausdruck einer gesellschaftlichen Haltung, die Behinderung mit Leiden gleichsetzte.
How to find genomic regions relevant for gene regulation
Authors: Guo Xuanzong , Ohler Uwe , Yildirim Ferah 
Published: December 2021

Abstract
Genetic variants associated with human diseases are often located outside the protein coding regions of the genome. Identification and functional characterization of the regulatory elements in the non-coding genome is therefore of crucial importance for understanding the consequences of genetic variation and the mechanisms of disease. The past decade has seen rapid progress in high-throughput analysis and mapping of chromatin accessibility, looping, structure, and occupancy by transcription factors, as well as epigenetic modifications, all of which contribute to the proper execution of regulatory functions in the non-coding genome. Here, we review the current technologies for the definition and functional validation of non-coding regulatory regions in the genome.
Tumor spheroids and organoids as preclinical model systems
Authors: Baniahmad Aria 
Published: December 2021

Abstract
The generation of three-dimensional (3D) cancer models is a novel and fascinating development in the study of personalized medicine and tumor-specific drug delivery. In addition to the classical two-dimensional (2D) adherent cell culture models, 3D spheroid and organoid cancer models that mimic the microenvironment of cancer tissue are emerging as an important preclinical model system. 3D cancer models form, similar to cancer, multiple cell–cell and cell–extracellular matrix interactions and activate different cellular cascades/pathways, like proliferation, quiescence, senescence, and necrotic or apoptotic cell death. Further, it is possible to analyze genetic variations and mutations, the microenvironment of cell–cell interactions, and the uptake of therapeutics and nanoparticles in nanomedicine. Important is also the analysis of cancer stem cells (CSCs), which could play key roles in resistance to therapy and cancer recurrence. Tumor spheroids can be generated from one tumor-derived cell line or from co-culture of two or more cell lines. Tumor organoids can be derived from tumors or may be generated from CSCs that differentiate into multiple facets of cancerous tissue. Similarly, tumorspheres can be generated from a single CSC. By transplanting spheroids and organoids into immune-deficient mice, patient-derived xenografts can serve as a preclinical model to test therapeutics in vivo.
Although the handling and analysis of 3D tumor spheroids and organoids is more complex, it will provide insights into various cancer processes that cannot be provided by 2D culture. Here a short overview of 3D tumor systems as preclinical models is provided.
Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy
Authors: Yigit Gökhan , Wollnik Bernd 
Published: December 2021

Abstract
Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous cardiac disease that is mainly characterized by left ventricular hypertrophy in the absence of any additional cardiac or systemic disease. HCM is genetically heterogeneous, inherited mainly in an autosomal dominant pattern, and so far pathogenic variants have been identified in more than 20 genes, mostly encoding proteins of the cardiac sarcomere. Based on its variable penetrance and expressivity, pathogenicity of newly identified variants often remains unsolved, underlining the importance of cellular and tissue-based models that help to uncover causative genetic alterations and, additionally, provide appropriate systems for the analysis of disease hallmarks as well as for the design and application of new therapeutic strategies like drug screenings and genome/base editing approaches. Here, we review the current state of cellular and tissue-engineered models and provide future perspectives for personalized therapeutic strategies of HCM.
Crystal structure of 2-(1H-indol-3-yl)ethan-1-aminium 2-(4-acetylphenoxy)acetate, C20H22N2O4
Authors: Yi-Min Feng , Xi-Shi Tai 
Published: December 2021

Abstract
C20H22N2O4, monoclinic, P21/c (no. 14), a = 18.1092(12) Å, b = 8.4026(6) Å, c = 11.6983(8) Å, β = 92.582(7)°, V = 1778.3(2) Å3, Z = 4, R
gt(F) = 0.0456, wR
ref(F
2) = 0.1137, T = 200.00(10) K.
Prevalence and causes of unreported needle stick injuries among health care workers: a systematic review and meta-analysis
Authors: Behzadmehr Razieh , Balouchi Abbas , Hesaraki Mehran , Alazmani Noodeh Farshid , Rafiemanesh Hosein , J. Nashwan Abdulqadir , Behmaneshpour Fateme , Rahdar Maliheh , Dastres Majid , Atharyan Shahaboddin , Jahantigh Maryam , Malekshahi Frood 
Published: December 2021

Abstract

Objectives
Health care workers (HCWs) are exposed to needle needles daily. Despite individual studies, there is no statistics on the prevalence of unreported needle stick injuries (NSIs) have been reported. This study was performed to determine the prevalence and causes of unreported NSIs among HCWs.

Content
In present systematic review and meta-analysis study, three international databases (Web of Science, Scopus, PubMed) were searched from January 1, 2000 to December 31, 2018. The random model was used to determine the prevalence of unreported needle stick among HCWs.

Summary and outlook
Forty-one studies performed on 19,635 health care workers entered the final stage. Based-on random effect model, pooled prevalence of unreported needle stick injuries was 59.9% (95% CI: 52.0, 67.7; I2=98.9%). The most common cause of unreported NSIs was: They were not worried about NSIs (n=12). The high prevalence of unreported needle sticks injuries indicates the urgency and necessity of paying attention to strategies to improve reporting among health workers.
“Yo I am Superman, You Kiddo Go Home”: ritual impoliteness in Chinese freestyle rap battles
Authors: Jia Mian , Yao Shuting 
Published: December 2021

Abstract
Introduced by African American communities, Chinese rap battle features an intensive ritual exchange of impoliteness, aggression, and vulgarity, but its linguistic realizations have not been systematically examined. Taking Iron Mic as a case study, this paper explores how advanced and novice rappers perform ritual impoliteness in Chinese underground rap battle competitions. Using mixed methods of discourse analysis and content analysis, we analyze the ritual impoliteness strategies in 51 rounds of Chinese freestyle rap battles. The findings show that advanced and novice rappers employed comparable instances of taboo language, threatening, and insults on their opponents’ superficial qualities and rap skills. Moreover, advanced rappers performed significantly more boasting and ritual insults on the others’ moral qualities. Their use of ritual impoliteness is warranted by hip-hop community norms of authenticity and creativity as well as Chinese social values of reciprocity, filial piety, and moral educators. This paper contributes to the research on Chinese ritual impoliteness and rap battle competitions.
Benefits of vitamin D supplementation to attenuate TBI secondary injury?
Authors: Saadatmand Kiana , Khan Saba , Hassan Quaratulain , Hautamaki Raymond , Ashouri Rani , Lua Josh , Doré Sylvain 
Published: December 2021

Abstract
Vitamin D supplementation has been shown to improve outcomes for patients suffering from a variety of illnesses such as stroke and cancer. Vitamin D deficiencies have been associated with longer hospital stays, greater severity of symptoms, and death in some complex cases. Due to vitamin D’s burgeoning role in improving patient outcomes, a new sector of research is focusing on the lesser-known implications of vitamin D on health. Traumatic brain injury (TBI) affects approximately 69 million people worldwide per year. Here, we summarize the current scientific understanding of vitamin D dynamics with TBI to elucidate a potential way to lessen the cascade of secondary damage after an initial insult, with the goal of improving overall patient outcomes. Because vitamin D supplementation has been correlated with better outcomes in other pathologies involving immune and inflammatory molecules, it is important to study the potential effect of vitamin D deficiency (VDD) and supplementation on TBI outcomes. Research on vitamin D supplementation in TBI remains in the preliminary stages. There is still much to learn about vitamin D deficiency, dosage, variants of supplementary forms, mechanisms, and its role in TBI.
The Household Food Insecurity Amidst the Covid-19 Pandemic in Indonesia
Authors: Anwar Muhammad , Nasrudin Rus'an 
Published: December 2021

The Coronavirus Disease 2019 (Covid-19) pandemic creates both the demand and supply shocks problem that may affect the households’ food insecurity. Among mechanisms, it ranges from the limited physical access to food due to social distancing to the drop in economic access to food due to (partial) lockdown. This study aims to lay out an early warning assessment of the food security situation in Indonesia amidst the Covid-19 outbreak. We use the cartogram analysis which visualize the geographical features throughout the Indonesia archipelago, both in the small and big island setting. The analysis involves the use of both the simple score and latent measurement-based scale of the Rasch model for the food insecurity based on the Susenas data from 2017-2019. The finding reveals that there existed a variation of the household proportion that suffers from severe food insecurity across the Indonesia archipelago. The more eastern the island, the worse the measure is. Papua and Maluku suffer more from such condition compared to the other big islands. As the government has applied any containment measures, the surge in Covid-19 cases may potentially worsen both the existing households under severe food insecurity and even create new households under such conditions.