bluuebunny/crossref_metadata_2025 huggingface dataset:
Antibiotic resistance features in Klebsiella pneumoniae and Escherichia coli strains isolated from hospital and community acquired urinary tract infections
Authors: HAITHAM AL SHAIKHLI NAWFAL , CRISTEA VIOLETA CORINA , GHEORGHE IRINA , IRRAYIF SAJJAD MOHSIN , MOHAMMED HAMZAH BASIL , SADIK OMAR , MIHAESCU GRIGORE
Published: December 2020

A total number of 35 strains (n=23 of K. pneumoniae and n=12 of E.coli) were isolated in May 2017 from patients with UTI, hospitalized in the National Institute for Cardiovascular Diseases Prof. C.C. Iliescu and from community infections (CA) diagnosed in Central Reference Synevo-Medicover Laboratory from Bucharest. The hospital strains were identified by BD Phoenix and the CA ones by mass spectrometry using MALDI Biotyper. The antibiotic susceptibility was determined by agar disk diffusion (CLSI, 2017) and automated methods (BD Phoenix and Vitek II system). For molecular characterization, all strains were analyzed be using PCR amplification. The investigated strains revealed the presence of tetracycline resistance gene, i.e. tet(A) (67% in E. coli and 45% of K. pneumoniae strains), tet(D) (8% of E. coli and 5% of K. pneumoniae strains), carbapenemase genes (blaOXA-48 in 40% of the K. pneumoniae strains); blaTEM (25% of E. coli strains and 10% of K. pneumoniae strains).
Study on VDR Polymorphism Influence in Associating with Diabetes Mellitus
Authors: BERCA LAVINIA-MARIANA , MOSOIU CLAUDIA-ELENA , NICA SILVIA , APOSTOL POMPILIA PETRUȚA , NICA REMUS , CIMPONERIU DANUT
Published: December 2020

The aim of this study was to evaluate the association between vitamin D receptor, IL6 polymorphisms and DM. DNA was used to genotype the VDR FokI (rs2228570), TaqI (rs731236) and ApaI (rs7975232) polymorphisms by PCR RFLP and IL6 G-174C (rs1800795) by tetra-primer ARMS PCR. The presence of torque teno viruses DNA was assessed with heminested-PCR. For this study T1DM (n = 107) and T2DM (n = 124) patients and matched clinically healthy subjects (n = 200) were recruited. T1DM patients have a tendency to be more frequent carriers of the C allele and TTV infection than controls (OR = 1.9, p = 0.03). VDR tt genotype and VDR “FAt” haplotype are risk factors for T1DM. VDR “fAt” haplotype may increases the risk for T2DM. These associations were not changed after exclusion from statistical analysis of patients with hypertension, myocardial infarction, stroke or breast cancer.
The importance of MLH1, MSH2, MSH6 and PMS2 in determining DNA damage response in digestive cancers
Authors: PITU FLAVIU , PASCA SERGIU , POPA CALIN , NADIM AL HAJJAR
Published: December 2020

Introduction: Genomic instability is a common feature across human cancers, but presents variation across different types of cancer, patients and cells of from the same tumor.This can be caused either by changes in the DNA damage repair pathways, aberrant histone modifications or methylation. The aim of this study was to determine the common mutated genes between digestive cancers that present genomic instability and to determine the biological processes in which these are implicated. Material and Methods: Mutational profiles for patients presenting digestive cancers and mutations in MLH1, MSH2, MSH6 and PMS2 were downloaded from the MSK impact cohort via cBioPortal. PANTHER was used to determine the GO SLIM processes in which the mutated genes are involved. R 3.5.3 and the R package circlize were used to generate chord diagrams. Results and Discussions: Considering the number of mutated genes from different digestive cancers it could be observed that the deregulated processes are general cellular processes, while when taking into consideration the fold change in overrepresentation of certain processes, the main deregulated processes are represented by DNA damage repair pathways, showing their overrepresentation in the selected cohort based on a few mutated genes. Conclusion: MLH1,MSH2,MSH6 and PMS2 mutations dictate the alterations in DNA damage repair pathways in digestive cancers.
Associated anaplastic large cell lymphoma (bia-alcl) with silicone breast implants
Authors: ARDELEANU VALERIU , PAUNICA STANA , COSTACHE RALUCA SIMONA , SERBAN DRAGOS , JECAN CRISTIAN RADU
Published: December 2020

Non-Hodgkin’s lymphoma of the breast is extremely rare. Most of these lymphomas are type B, including large B cell diffuse lymphoma, extra-nodal marginal lymphoma, follicular lymphoma, primary effusion lymphoma and lympho-plasma-cytic lymphoma. BIA-ALCL is negative anaplastic lymphoma kinase (ALK) and is characterized by cells with horseshoe-shaped eccentric nuclei called “hallmark cells”. Unlike other types of ALCL, BIA-ALCL rarely invades your breast in depth. By contrast, non-Hodgkin’s T-cell lymphoma (NHL) found in breasts without implants is mostly B cell lymphoma. Due to the increasing number of cases and the fact that the first case also appeared in Romania, we consider it advisable to take information and prevention measures as well as to adopt a treatment protocol in our country. The present paper aims at adopting a unitary diagnosis and treatment protocol for all plastic surgeons. We also consider it advisable to inform patients before surgery on risk. Through this paper we want to propose a national protocol to follow and also to argue its choice.
Fracture resistance of mollars with MOD cavities restored with different materials
Authors: MĂRGĂRIT RUXANDRA , SUCIU IOANA , BODNAR DANA CRISTINA , GRIGORE MIHAELA , SCĂRLĂTESCU SÎNZIANA ADINA , ANDREI OANA CELLA , MURARIU MĂGUREANU CĂTĂLINA , CHIRILĂ MIHAELA , BENCZE ANGELICA , IONESCU ECATERINA
Published: December 2020

Restoring teeth with second class cavities is a challenge in dentistry. Both the carious process and the preparation of the cavity for the dental restoration reduces the tooth resistance to the masticatory forces. It has been shown that modern aesthetic materials using an adhesive system improve the stress resistance of the restored teeth. There is a series of studies that attempted to determine the type of optimal material that would provide increased resistance to occlusal demands. In the present study we tried to determine the fracture resistance of molars with second class cavities restored with different categories of aesthetic materials. Thus, forty intact molars were divided into five groups of 8 teeth, MOD cavities were prepared and the teeth were restored with three types of materials: nanofilled composite, mycrohibrid composite and ormocer. The teeth of the first group were left unprepared, and those belonging to the second group were subjected to the preparation of MOD cavities but were not filled. Samples were subjected to compression using an Universal Loading Machine (Lloyd Instruments) and the value of the force they failed was recorded. Intact teeth showed the highest resistance to compression and those with MOD cavities prepared but not filled showed the smallest. Of the groups that benefited from restoration with filling material, the teeth restored with ormocer had the highest resistance, followed by those restored with nanofilled composite, and finally by those restored with mycrohibrid composite.
The Debate on the New Historical Stage: Marxism and the Concept of Post-Industrial Society
Authors: Trubitsyn Oleg K.
Published: December 2020

Marxism and the theory of post-industrial society are two competing but largely similar approaches to the interpretation of social development. The emergence of the hypothesis of the transition to a new, post-industrial stage of history was a challenge for Marxist theorists. They responded with a series of arguments, more or less valid, attempting to refute the main tenets of the competing theory. By now, the dispute is not over. However, it became clear that the key points of both approaches needed further justification.
Normative Legal Textualityas One of the Modes of Expression of Legal Consciousness
Authors: Sakaeva Zarema L.
Published: December 2020

The paper offers a philosophical analysis of the phenomenon of legal consciousness. We study one of the modes of legal consciousness - normative legal textuality, since it is a means of transcribing the phenomenon of legal consciousness. Outside of the classical concepts of jurisprudence and philosophy, the following categories were reflected upon: legal consciousness, text, normative legal act, discourse, and author. The subjects in the process of creating a normative legal text are: narrator, author (developer), and addressee. The distinctive feature of the authors of draft legal acts is that their legal status is quite limited compared to the legal status of the authors of any other results of intellectual activity. The addressees of draft normative legalacts are state bodies, while the addressees of texts of normative legal acts are subjects of law. For their addressees, the addressers of the texts of legal acts always remain incognito persons.
The Gap between the Intensional and Extensional in Mathematics
Authors: Tselishchev Vitaliy V. , Khlebalin Alexander V.
Published: December 2020

The paper is devoted to the study of the divergence of the intensionalist and extensionalist traditions in the foundations of mathematics. One of the important manifestations of this discrepancy was the debate on the status of the Axiom of Choice. In particular, we argue that Russell's challenging Axioms of the Choice is connected with his intensionalist philosophy of mathematics and the extensionalist approach of Zermelo. It is shown that the opposition of the intensionalist and extensionalist approaches includes such key problems of the philosophy of mathematics as the epistemological features of theorems and axioms, the nature of logical-philosophical analysis, and the role of logic in mathematics.
Epistemic Justification: Deontological Aspects
Authors: Shevchenko Aleksandr A.
Published: December 2020

The article analyzes the problems related to the philosophical analysis of epistemic duties – ranging from doubts about their existence as duties of a special kind to discussing the boundaries of such obligations and the limits of responsibility of the epistemic subject. Special attention is paid to the consideration of epistemic behavior that goes beyond the "call of duty”, supererogatory actions. The paper describes the main characteristics and examples of such behavior and makes a conclusion about the need to block or substantially clarify the imperatives of epistemic rationality, which require actions, although commendable from the point of view of standard epistemic normativity but lying beyond the scope of what is epistemically due.
Methodological Foundations of Risk Analysis, Assessmentand Management
Authors: Diev Vladimir S.
Published: December 2020

The paper aims to represent the author’s methodological position that risk is a consequence of the decisions made by the person and is always associated with the person who not only makes a choice, but also evaluates the probabilities of possible events and associated losses. Taking a risk, the person chooses an alternative that is the result of her decision, although the possible results are not exactly known to her. The key to managing risk is the issue of measuring it. The law of large numbers by J. Bernoulli and related methodological and philosophical issues are considered. The significance of the St. Petersburg paradox for the modern understanding of risk is shown. Our thesis is that decision-making under the conditions of risk is not a person’s collision with circumstances independent of her, but a conscious and rational choice.
Power of 3D Transrectal Ultrasonography and Magnetic Resonance Imaging in Diagnosis of Cryptogenic Rectal Fistulae
Authors: Kiselev D. O. , Zarodnyuk I. V. , Trubacheva Yu. L. , Eligulashvili R. R. , Мatinyan A. V. , Kostarev I. V.
Published: December 2020

Background. The only radical curative treatment for rectal ﬁstulae is surgery. The choice of surgery requires precise characterisation of the ﬁstulous tract. The most common instrumental methods for rectal ﬁstula diagnosis are transrectal ultrasonography (TRUS) and magnetic resonance imaging (MRI).

Objectives. Comparative assessment of the diagnostic power of 3D TRUS and MRI techniques in revealing cryptogenic anal ﬁstulae with respect to intraoperative examination.

Methods. The study enrolled 92 patients with rectal ﬁstulae aged 27 to 66 years. Fistulous opening was external in 47 (51.1%) and obliterated in 45 (48.9%) patients. The average patient age was 42.7 ± 15.9 years. Surgery for acute paraproctitis 14 to 32 days prior to examination was in history of 58 (63.1%) patients. All patients had preoperative subsequent 3D TRUS and MRI compared with intraoperative examination results.

Results. The rate of correct ﬁstulous tract type diagnosis veriﬁed with intraoperative revision was 96.7% (89/92) with 3D TRUS and 82.6% (76/92) with MRI (p = 0.0027). The error rate of 3D TRUS estimation of external sphincter involvement was 1.1% (1/92), sensitivity 96.6%, speciﬁcity 93.5%, overall accuracy 94.5%. The MRI error rate was 21.7% (20/92), with a statistically signiﬁcant difference for sensitivity and overall accuracy (p < 0.0001). The rate of correct estimation of internal ﬁstulous localisation in “anorectal clock” was 97.8% (90/92) with 3D TRUS and 90% (81/90) with MRI (p = 0.0342). Internal ﬁstula was not detected with MRI in 2/92 (2.2%) cases, which explains the deviation. Intraoperative revision identiﬁed total 113 abscesses. The rate or correct abscess estimation was 97.3% (110/113) with 3D TRUS and 74.7% (71/95) with MRI. MRI failed to detect abscess in 18/113 (15.9%) cases (p < 0.0001).

Conclusion. 3D transrectal ultrasonography is statistically superior over magnetic resonance imaging in estimating internal ﬁstula localisation in “anorectal clock”, ﬁstulous type, as well as the ﬁstulous tract location relative to external sphincteric tissue in patients with transsphincteric anal ﬁstulae. Estimation of pararectal and intramural abscesses was also signiﬁcantly different.
Revisão sistemática sobre o uso da flibanserina no desejo sexual hipoativo em mulheres na pré menopausa
Authors: Oliveira Marina Leite , Cardoso Julia Gonçalves Faleiros , De Souza Iara Chaves , Reis Letícia Pontes , Da Silva Isadora Ávila Chagas , Macedo Gabriela Dias , De Vasconcelos Sanzio Rafael Faria , Almeida Ana Luísa Melgaço , Nagem Ana Luiza Ledro , Turci Maria Aparecida
Published: December 2020

O objetivo do presente artigo foi avaliar o uso da Flibanserina em comparação ao placebo na melhora do desejo sexual hipoativo (DSH) em mulheres na pré-menopausa. Realizou-se um Protocolo de Revisão Sistemática com busca nas bases de dados Cochrane, Pubmed e Biblioteca Virtual do Ministério da Saúde (BVSaúde). Os artigos foram selecionados por uma dupla de revisores independentes, considerando critérios de inclusão e de exclusão pré-definidos. Esta Revisão Sistemática contém 8 ensaios clínicos randomizados (ECR), derivados de 474 artigos. Os estudos analisaram a capacidade da Flibanserina em aumentar a libido das pacientes diagnosticadas com DSH, excluídas outras causas. Os desfechos demonstraram eficácia do medicamento utilizado na posologia de 50 mg ou 100 mg, por, no mínimo, 24 semanas, apesar de efeitos colaterais. Pode-se concluir que uso da Flibanserina no tratamento do DSH, comparado ao placebo, foi eficaz, se usado por 24 semanas, nas doses de 50 mg ou 100 mg.
Evidências da influência da vitamina D com a fertilidade feminina: uma revisão sistemática
Authors: Da Silva Davi Candido Barbosa , Dos Santos Jacqueline Carvalho , Costa Nayane do Nascimento , Da Silva Danielle Alice Vieira , Da Silva Ana Camila Lemos , Da Silva Jeane Belarmino , Matias Jucileia Gomes , De Lima Priscila Monik Pereira , Ramalho Alyne da Costa Araujo , Da Silva Priscilla Maria Bernardo
Published: December 2020

Objetivo: Constatar de que maneira a vitamina D pode influenciar na fertilidade feminina. Métodos: Para tanto, foi realizado uma revisão sistemática. As buscas foram feitas nas bases de dados da National Library of medicine (PubMed), Literatura Latino-Americana e do Caribe em ciências da saúde (LILACS) e Scientific Electronic Library (SCIELO) com as palavras chave Vitamin D AND Fertility. Resultados: Ao analisar os 11 artigos selecionados, constatou-se que a insuficiência e a deficiência de vitamina D são condições frequentes na população feminina. Não foram encontradas de fato uma evidência direta de que o status de vitamina D possa estar associada a fertilidade, mas foi visto que indiretamente os baixos níveis podem estar relacionados a várias patologias do sistema reprodutor feminino, como endometriose e baixa reserva ovariana, corroborando assim para uma possível infertilidade. Considerações Finais: Ressalta-se a importância de novas pesquisas para esclarecer as lacunas referente ao papel da vitamina D e a fertilidade em mulheres.
Absence of contrast enhancement in a petroclival meningioma: Case report and systematic literature review
Authors: Adepoju Adedamola , Narayan Ananth , Aldyab Mahmoud , Foyt David , Peris-Celda Maria
Published: December 2020

Background:

Meningioma is one of the most common intracranial tumors with well-established radiologic features such as contrast enhancement, dural tail, and hyperostosis on computed tomography and magnetic resonance imaging. Contrast enhancement is usually homogeneous or heterogeneous based on tumor vascularity and underlying histopathology. Even in this context, faint or nonenhancing meningioma is exceedingly rare.

Case Description:

A 57-year-old male presented with progressive right hearing loss, disequilibrium, occasional difficulty swallowing, and facial numbness. Imaging demonstrated an extensive hypodense, nonenhancing right cerebellopontine angle mass extending from the interpeduncular, and ambient cisterns to the foramen magnum. The pathological analysis demonstrated a microcystic meningioma WHO Grade I. There are few reported case reports or series of minimal or nonenhancing meningiomas, and a systematic review was performed for these cases. Seven peer-reviewed articles with 14 verifiable cases were identified and reviewed for radiologic features, tumor location, and tumor classification. The majority of minimal or nonenhancing meningiomas were microcystic, and most of them located at the convexity. This is the second case reported of a nonenhancing meningioma at the cerebellopontine angle and petroclival region

Conclusion:

Meningioma should be considered a differential diagnosis for nonenhancing lesion at the cerebellopontine and petroclival regions.
PRIMARY TAXES REGISTERS AS A HISTORICAL SOURCE (ON THE EXAMPLE OF THE VOLYNIAN CITIES IN THE MIDDLE OF THE XVI CENTURY)
Authors: Atamanenko Viktor
Published: December 2020

Much of the work on the problems of socio-economic history (including urban issues) of Volhynia in the middle and second half of the XVI century are based on state tax documents. Since the Lublin Union, there are very few such sources. Besides, they did not cover a significant number of urban settlements. A higher level of regularity of taxation and greater control resulted in better preservation of the so-called [taxation] registers. For Volyn, this can only be said about the two-decade period after the Lublin Union. The chronological representativeness of this group of sources cannot be considered satisfactory. This applies to the least used and practically not represented by researchers and archaeographers in circulation in the entirety of the primary registers. The complex of such sources requires the implementation of their source characteristics as a separate variety (including specific historical issues) and in comparison with the already used tax documentation, mostly generalized by administrative-territorial units. State fiscal documentation consisted of several levels of sources. The first consideration of state revenue cases for the incorporated territories was already included in the resolution of the Lublin Sejm in 1569, where it occupied almost the largest volume compared to other issues and was also issued as a separate Taxation Universal. Thus, for the first time, the Ukrainian lands included into Poland received a well-developed basis for taxation. When collecting a tax, the owners or their administration created special lists – primary tax registers. All surviving primary tax registers date back to the first decade after the Lublin Union.Primary tax registers for 1569-1570 survived only for a few Volyn cities. These are Buremel, Zvinyhorod, Zviahel, Koblin, Nesukhoizhi, Turiisk, Ostrozhets. Compared to the total register of 1570, this number of recorded cities is insignificant. But this is offset by the nature of the information. The primary tax documentation contains a personal record of the population with an indication of the tax grounds for each person. In some cases (for households) they contain evidence of the gender structure of the population. Thus, for demographic research, such sources have a number of advantages.
PARTICIPATION OF DANYLO SHUMUK IN THE NORILSK UPRISING
Authors: Finikovskyi Yurii
Published: December 2020

The Norilsk uprising was a major strike by Gulag inmates in Gorlag, a special camp mostly for political prisoners, in the summer of 1953, shortly after Joseph Stalin’s death. About 70% of inmates were Ukrainians, many of whom had been sentenced for 25 years to the so-called «Bandera Standard». It was the first major revolt within the Gulag system in 1953-1954. Between May 26 and August 4, 1953, the inmates of the Gorlag-Main camp went on strike, which lasted 69 days. This was the longest uprising in the history of the Gulag. The preconditions for the uprising can be seen as the following: the arrival of waves of prisoners to the Gorlag, who had participated in the uprisings of 1952, the death of Stalin on March 5, 1953 and the fact that the amnesty that followed his death only applied to (non-political) criminals and convicts with short prison terms, the percentage of which was very low in Gorlag. All categories of inmates took part in the uprising, with the leading roles played by former military men and participants of national liberation movements of western Ukraine, Georgia and the Baltics. Norilsk uprising combined various forms of protest – hunger strike, resignation, riot, armed uprising. One of the leaders of the uprising was Danylo Shumuk, a former employee of one of the UPA’s political divisions. The article describes the participation of a Ukrainian political prisoner, a participant in the national liberation movement in Volyn during World War II, Danylo Shumuk in the organization of the Norilsk Uprising of Political Prisoners (June-August 1953). The process of creating a conspiratorial formation by an activist – a «Selfhelp organization», the goals, composition, methods of activity of its members, the relationship between them are shown. On the basis of domestic and foreign sources, the forms of protest of prisoners and their demands were analyzed. The main results of the struggle of political prisoners and their future fate are highlighted. It is evidence-based the Ukrainian central role in Norilsk uprising, which was one of the strongest in the history of the Gulag, and resulted its reformation.
Investigation of usability and measurement accuracy of 3D body scanning mobile applications
Authors: Strunevich Ekaterina , Detering-Koll Ute , Quattelbaum Bastian
Published: December 2020

In this research project an independent case study on the new contactless 3D body measuring native mobile applications has been carried out. The presented approach allows combination of three different measurement methods: the manual body measuring with the help of traditional instruments, 3D full body scanning technology and the contactless body measuring via smartphone applications. This paper discusses results of the investigation of usability of the measurement process via 3D body scanning apps on the Gage R&R methodology and the examination of their measuring accuracy. The current research provides analysis of body data obtained by the mobile scanning apps with the help of various methods.
Functionalization of medical textiles
Authors: Sadretdinova Natalija , Bereznenko Sergey , Bilotska Larisa , Pawłowa Maria , Halina Szafrańska , Bakal Vitalii , Natalia Bereznenko
Published: December 2020

An important basis for the creation of medical clothing is realization of the influence of various factors that arise in the interaction of elements of the system "man–clothes–production environment". Given the increasing technogenic burden on health of both medical staff and hospital patients, the assessment of the role of medical clothing in forming the energy balance of direct consumers is extremely relevant.
Previous studies have experimentally confirmed the presence of energy effects of textile materials on the human body. However, determination of the nature of the impact is a complex task, which solution depends on a number of factors, such as the raw material composition, its structure, surface characteristics, etc.
The purpose of our paper is to study the development of textile multifunctional materials for medical purposes and to study their energy-information impact on the human body. The following tasks have been solved in the course of the study. For use in the medical field, several samples of textile materials with antimicrobial properties, modified by herbal preparations, were obtained. Properties of textile materials that determine the possibility of their use in medical practice have been investigated. The influence of the experimental samples on the functional state of the organs and systems of human organs by use of the methods of information-wave therapy is evaluated.
Results of the work of the geneticist's office of the Medical Genetic Consultation of the Astrakhan Region for the period 2017-2019
Authors: Николаева О.П. , Рипп С.В. , Грященко В.Н.
Published: December 2020

Представлены сводные данные по деятельности медико-генетической консультации Астраханской области за период 2017-2019 годов.

Summary data on the activities of the medical and genetic consultation of the Astrakhan region for the period 2017-2019 are presented.
RASopathies in multidisciplinary pediatric hospita
Authors: Журкова Н.В. , Гандаева Л.А. , Пушков А.А. , Басаргина Е.Н. , Пахомов А.В. , Труфанов С.К. , Алексеева А.Ю. , Савостьянов К.В.
Published: December 2020

RAS-патии - группа наследственных заболеваний, возникающая вследствие нарушения регуляции функции RAS/MAPK внутриклеточных путей (Ras/mitogen-activated protein kinase). Суммарная частота заболеваний данной группы - 1 случай на 1000 новорожденных. Наиболее часто среди RAS-патий встречается синдром Нунан. В настоящее время описано 13 генов, мутации которых отвечают за развитие данного заболевания, включая ген SHOC2, ассоциированный с Нунан-подобным синдромом и измененной структурой волос (Noonan-like syndrome with loose anagen hair) и ген LZTR1, мутации в котором приводят к развитию синдрома Нунан, тип 2 с аутосомно-рецессивным типом наследования.

RASopathies - group of inherited diseases, caused by mutations in genes, encoding components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. We identified 28 patients with inherited diseases from RASopathies: 61% - with Noonan syndrome, 14 % - with Cardiofaciocutaneous syndrome, 14% - with Costello syndrome - 11% - Noonan syndrome-like with loose anagen hair. Mutation c.770C>T, p.S257L in RAF1gene is most common in hypertrophic cardiomyopathy patients with Noonan syndrome. All patients with Noonan syndrome-like with loose anagen hair have mutation c.4A>G , p.S2G in SHOC2 gene.
Phenotype-genotype correlations in patients with inherited ABCA4-associated retinal diseases
Authors: Шеремет Н.Л. , Грушкэ И.Г. , Жоржоладзе Н.В. , Ронзина И.А. , Кадышев В.В. , Алексеева Е.А. , Танас А.С. , Стрельников В.В.
Published: December 2020

Целью исследования было охарактеризовать клинико-генетические корреляции у пациентов с ABCA4-ассоциированными наследственными заболеваниями сетчатки (НЗС). Распространенная «мягкая» мутация АВСА4:p.G1961E была обнаружена у 20 из 54 больных, наблюдающихся с НЗС и имеющих, по крайней мере, одну мутацию в гене АВСА4. У 8 пациентов p.G1961E выявлена в компаунд-гетерозиготном состоянии с комплексной миссенс-мутацией p.[L541P;A1038V], у 6 - с другими миссенс-мутациями (p.N1805D; p.R1640W; p.P1088T; p.L541P; p.P1380L; p.R1640Q). В нашей выборке у пациентов с длительностью заболевания от 9 лет мутация p.G1961E в 81% случаев ассоциирована с лёгким течением НЗС, даже при наличии второй тяжелой мутации, и является предиктором более легкого течения заболевания, в соответствии с базовой моделью клинико-генетических корреляций при АВСА4-ассоциированных заболеваниях.

The aim of this study was to characterize phenotype-genotype correlations in patients with ABCA4-associated IRDs. By NGS, we have identified the widespread “mild” ABCA4 mutation p.G1961E in 20 of 54 IRD patients with at least one mutation in the ABCA4 gene. In 8 patients, p.G1961E was in combination with a complex missense mutation p. [L541P; A1038V], in six - in combination with other missense mutations (p.N1805D; p.R1640W; p. P1088T; p.L541P; p.P1380L; p.R1640Q). In 81% of our patients with a disease course of 9 years or more, the p.G1961E mutation is associated with mild disease, even in the presence of a second severe mutation, and is a predictor of a milder phenotype, in accordance with the basic model of phenotype-genotype correlations in ABCA4-associated diseases.
Prenatal case of detection of the asphyxiating thoracic dystrophy (Jeune syndrome)
Authors: Синельникова И.А. , Сопрунова И.В. , Грященко В.Н. , Николаева О.П. , Калинина Е.А.
Published: December 2020

Асфиктическая дисплазия грудной клетки представляет собой редкое аутосомно-рецессивное наследственное заболевание, которое характеризуется узкой грудной клеткой, короткими рёбрами, укороченными трубчатыми костями, возможно сочетание этих симптомов с полидактилией, аномалиями мозга, сердца, почек, печени, поджелудочной железы. В статье представлен случай пренатального выявления синдрома асфиктической дисплазии грудной клетки (синдром Жене)

Short-rib thoracic dysplasia (SRTD) is an autosomal recessive disorder characterized by a constricted thoracic cage, short-ribs, shortened tubular bones, polydactyly is variably present. The visceral malformation can include anomalies brain, heart, kidneys, liver, pancreas. We present a case report of prenatally diagnosed Short-rib thoracic dysplasia (SRTD) syndrome.
Associations of rs1801197 polymorphism of the calcitonin receptor gene CALCR with postmenopausal osteoporosis
Authors: Резниченко Н.А. , Адунц А.Г.
Published: December 2020

Обследовано 116 женщин в постменопаузе. Установлено неравномерное распределение генотипов полиморфизма rs1801197 гена CALCR в группах здоровых женщин, пациентов с остеопорозом и остеопенией (р=0,036). Среди женщин с остеопорозом и остеопенией по сравнению со здоровыми лицами значительно чаще регистрируется аллель С (p<0,001).

We examined 116 postmenopausal women. An uneven distribution of the rs1801197 polymorphism genotypes of the CALCR gene was found in the groups of healthy women, patients with osteoporosis and osteopenia (p = 0.036). Among women with osteoporosis and osteopenia, compared with healthy individuals, the C allele is significantly more often recorded (p <0.001).
Verification of a syndrome with a high degree of genetic heterogeneity and clinical polymorphism
Authors: Галкина В.А. , Миронович О.Л. , Зинченко Р.А.
Published: December 2020

Наследственные синдромы множественных врожденных пороков развития (МВПР) - большая группа хромосомных и моногенных заболеваний, насчитывающая в настоящее время более 3-х тысяч форм. Диагностика и верификация синдромов МВПР часто бывает затруднительной в силу многообразия форм, межсемейного и внутрисемейного клинического полиморфизма, и при спорадических случаях заболевания наиболее достоверной будет при полном комплексе фенотипических признаков. Кроме того дифференциальная диагностика также может быть затруднена в силу схожести фенотипических признаков при разных синдромах. В подобных случаях проблему уточнения диагноза и решения вопроса о возможности проведения в семье пренатальной диагностики при последующей беременности может решить применение методов высокопроизводительного секвенирования ДНК (NGS). В результате NGS диагностирован редкий вариант синдрома Жубера, без молекулярно-генетической верификации диагностика была бы затруднительна.

Нereditary syndromes of multiple congenital malformations (MCM) are a large group of chromosomal and monogenic diseases, currently reaching more than 3 thousand forms. Diagnosis and verification of MCM syndromes is often difficult due to the variety of forms, inter-family and intra-family clinical polymorphism, and in sporadic cases, the most reliable will be with a full set of phenotypic features. In addition, differential diagnosis can also be difficult due to the similarity of phenotypic features in different syndromes. In such cases, the use of high-performance DNA sequencing methods can solve the problem of clarifying the diagnosis and resolving the issue of whether prenatal diagnosis of the disease in the fetus can be carried out in the family during subsequent pregnancy. As a result, NGS diagnosed a rare variant of Joubert syndrome, without molecular genetic verification, diagnosis would be difficult.
The study of gene polymorphisms, involved in the metabolism of beta-2-agonists and histamine, in the development and course of asthma
Authors: Савельева О.Н. , Карунас А.С. , Федорова Ю.Ю. , Мурзина Р.Р. , Савельева А.Н. , Актаева Е.Е. , Гатиятуллин Р.Ф. , Эткина Э.И. , Загидуллин Ш.З. , Хуснутдинова Э.К.
Published: December 2020

Бронхиальная астма (БА) является одним из наиболее распространенных тяжелых и инвалидизирующих хронических заболеваний многофакторной природы. Показано, что до 50-60 % чувствительности к терапии БА обусловлено генетической вариабельностью. Проведено исследование полиморфных вариантов генов, участвующих в метаболизме бета-2-агонистов (CRHR2, ADCY9, THRB, SPATS2L) и гистамина (AOC1, HRH4) у пациентов с БА и в контрольной группе индивидов различной этнической принадлежности.

Asthma is one of the most common severe and disabling chronic diseases. It has been shown that up to 50-60% of sensitivity to asthma therapy is due to genetic variability. The study of polymorphisms of genes involved in the metabolism of beta-2-agonists (CRHR2, ADCY9, THRB, SPATS2L) and histamine (AOC1, HRH4) in asthma patients and individuals of the control group of different ethnicities were carried out.
Paclitaxel-induced disorders in hematopoietic progenitor cells as a possible cause of the development of distant genoand myelotoxicity in CBA mice
Authors: Федорова Е.П. , Неупокоева О.В. , Ставрова Л.А. , Воронова О.Л. , Сандрикина Л.А. , Чурин А.А.
Published: December 2020

Выявлено генотоксичное воздействие паклитаксела на хромосомный материал дифференцированных клеток костного мозга самцов и самок мышей в ранние и отдаленные сроки исследования. Установлено, что в эти же сроки наблюдения паклитаксел вызывает гипоплазию костного мозга и снижает в костном мозге экспериментальных животных количество ранних клеток-предшественников эритропоэза, а также способствует уменьшению их пролиферативного потенциала независимо от пола.

The genotoxic effect of paclitaxel on the chromosomal material of differentiated bone marrow cells in male and female mice was revealed in the early and long-term periods of the study. It was found that during the same observation period paclitaxel causes bone marrow hypoplasia and reduces the number of early erythropoiesis progenitor cells in the bone marrow of experimental animals, and also contributes to a decrease in their proliferative potential regardless of gender.
Molecular-cytogenetics characteristics for cancerogenic risk estimation in I-II generations of irradiated persons
Authors: Балева Л.С. , Сипягина А.Е. , Сухоруков В.С. , Карахан Н.М. , Егорова Н.И.
Published: December 2020

Исследована значимость геномной нестабильности и процессов мутагенеза для механизмов формирования онкологических заболеваний и наличие трансгенерационного феномена у I-II поколений, подвергшихся действию радиационного фактора.

The significance of genomic instability and mutagenesis processes in the mechanisms of cancer formation and the presence of transgenerational phenomenon in I-II generations exposed to the radiation factor was investigated.
Three-Dimensional Triptycene-Based Covalent Organic Frameworks with ceq or acs Topology
Authors: Li Hui , Chen Fengqian , Guan Xinyu , Li JIali , Li Cuiyan , Tang Bin , Valtchev Valentin , Yan Yushan , Qiu Shilun , Fang Qianrong
Published: December 2020

The growth of three-dimensional covalent organic frameworks (3D COFs) with new topologies is still considered as a great challenge due to limited availability of high-connectivity building units. Here we report the design and synthesis of novel 3D triptycene-based COFs, termed JUC-568 and JUC-569, following the deliberate symmetry-guided design principle. By combining a triangular prism (6-connected) node with a planar triangle (3-connected) or another triangular prism node, the targeted COFs adopt unreported ceq or non-interpenetrated acs topology, respectively. Both materials show permanent porosity and impressive performance in the adsorption of CO2 (~ 98 cm3/g at 273 K and 1 bar), CH4 (~ 48 cm3/g at 273 K and 1 bar), and especially H2 (up to 274 cm3/g or 2.45 wt% at 77 K and 1 bar), which is highest among porous organic materials reported to date. This research thus provides a promising strategy for diversifying 3D COFs based on complex building blocks and promotes their potential applications in energy storage and environment-related fields.
Fluorescent Nanodiamond–Nanogels for Nanoscale Sensing and Photodynamic Applications
Authors: Wu Yingke , Alam Md Noor A , Balasubramanian Priyadharshini , Winterwerber Pia , Ermakova Anna , Müller Michael , Wagner Manfred , Jelezko Fedor , Raabe Marco , Weil Tanja
Published: December 2020

Fluorescent nanodiamonds (NDs) are carbon-based nanoparticles with various outstanding magneto-optical properties. After preparation, NDs have a variety of different surface groups that determine their physicochemical properties. For biological applications, surface modifications are crucial to impart a new interphase for controlled interactions with biomolecules or cells. Herein, a straight-forward synthesis concept denoted "adsorption-crosslinking" is applied for the efficient modification of NDs, which sequentially combines fast non-covalent adsorption based on electrostatic interactions and subsequent covalent cross-linking. As a result, a very thin and uniform nanogel coating surrounding the NDs is obtained, which imparts reactive groups as well as high colloidal stability. The impact of the reaction time, monomer concentration, molecular weight, and structure of the cross-linker on the resulting nanogel shell, the availability of reactive chemical surface functions and the quantum sensing properties of the coated NDs has been assessed and optimized. Post-modification of the nanogel-coated NDs was achieved with phototoxic ruthenium complexes yielding ND-based probes suitable for photodynamic applications. The adsorption-crosslinking ND functionalization reported herein provides new avenues towards functional probes and traceable nanocarriers for high resolution bioimaging, nanoscale sensing and photodynamic applications.
Controlling Multiple Orderings in Metal Thiocyanate Molecular Perovskites Ax{Ni[Bi(SCN)6]}
Authors: Lee Jie Yie , Ling Sanliang , Argent Stephen , Senn Mark , Cañadillas-Delgado Laura , Cliffe Matthew
Published: December 2020

We report four new A-site vacancy ordered thiocyanate double double perovskites,A1􀀀xfNi[Bi(SCN)6]1􀀀x3 }, A = K+, NH4+, CH3(NH3)+ (MeNH3+) and C(NH2)3+ (Gua+), including the first examples of thiocyanate perovskites containing organic A-site cations. We show, using a combination of X-ray and neutron diffraction, that the structure of these frameworks depends on the A-site cation, and that these frameworks possess complex vacancy-ordering patterns and cooperative octahedral tilts distinctly different from atomic perovskites. Density functional theory calculations uncover the energetic origin of these complex orders and allow us to propose a simple rule to predict favoured A-site cation orderings for a given tilt sequence. We use these insights, in combination with symmetry mode analyses, to show that these complex orders offer a new route to non-centrosymmetric perovskites which render them as excellent candidates forpiezo- and ferroelectric applications.
Efficacy of intralesional Purified Protein Derivative (PPD) in the treatment of multiple warts
Authors: Venkatesh Lakshmi  , Sathya narayanan  , Narasimhalu C R V
Published: December 2020

Cutaneous warts are a common dermatological condition caused by the human papillomavirus (HPV) strains 1,2,4 and rarely 57. Although it is a benign condition, it causes disfigurement, pain, discomfort, has a tendency to koebnerize, and can be transmitted to others. This makes adequate and timely treatment important. There are several conventional treatments available which include electrosurgery, cryotherapy and topical medications like imiquimod which show variable responses. Our study evaluated the effectiveness and associated side effects of intralesional PPD for the treatment of multiple warts in a group of 20 patients. This is done as a form of immunotherapy. It was administered at a dosage of 0.1ml into each lesional site every two weeks until the clearance of lesions or up to a maximum of 6 injections. We observed a marked response in 5%, moderate response in 75% and no response in 20 % of our study population with no complications. On comparison to previous similar studies, the accuracy of our observed results for efficacy and observed side effects was reinforced. Hence proves to be a modality of treatment that should be more widely used for the treatment of warts as it is cheap, safe, less stressful and comparatively more effective.
Knowledge and awareness towards intrauterine contraceptive devices among Indian women in the reproductive age group in a tertiary care teaching hospital
Authors: Rufas S  , Parimala A
Published: December 2020

Intrauterine contraceptive device (IUCD) is convenient, a one-time procedure, OP procedure, long-acting, cheap, having less side effects and reversal of fertility is soon after removal, makes it suitable temporary contraception. To improve its usage and to improve the Nation's economy by uplifting family health is by creating awareness among women. This can be achieved by counselling, health talks, educating them. These targets can be met during their visit to hospitals for general ailment or by public awareness programs. The objective of this study is to evaluate knowledge, awareness towards the IUCD among Indian women in the reproductive age group (18 to 45 years) in a tertiary care teaching hospital.  A Cross-Sectional Mixed Research from January 2019 to June 2019 was done among patients in the age group of 18-45 years attending the outpatient department of a tertiary care teaching hospital. The analysed results showed only 63% of participants were aware about the need for birth spacing and limiting child birth. 47% of participants interviewed knew that the device is used to prevent pregnancy while the rest didn't even know what an IUCD is. This survey concludes poor awareness about the IUCD among women in the study group. We have to improve the awareness and usage of IUD with proper health education and counselling.
Detection and localization enhancement for satellite images with small forgeries using modified GAN-based CNN structure
Authors: Fouad Mohamed Mahmoud , Mostafa Eslam Magdy , Elshafey Mohamed Abdelmoneim
Published: December 2020

The image forgery process can be simply defined as inserting some objects of different sizes to vanish some structures or scenes. Satellite images can be forged in many ways, such as copy-paste, copy-move, and splicing processes. Recent approaches present a generative adversarial network (GAN) as an effective method for identifying the presence of spliced forgeries and identifying their locations with a higher detection accuracy of large- and medium-sized forgeries. However, such recent approaches clearly show limited detection accuracy of small-sized forgeries. Accordingly, the localization step of such small-sized forgeries is negatively impacted. In this paper, two different approaches for detecting and localizing small-sized forgeries in satellite images are proposed. The first approach is inspired by a recently presented GAN-based approach and is modified to an enhanced version. The experimental results manifest that the detection accuracy of the first proposed approach noticeably increased to 86% compared to its inspiring one with 79% for the small-sized forgeries. Whereas, the second proposed approach uses a different design of a CNN-based discriminator to significantly enhance the detection accuracy to 94%, using the same dataset obtained from NASA and the US Geological Survey (USGS) for validation and testing. Furthermore, the results show a comparable detection accuracy in large- and medium-sized forgeries using the two proposed approaches compared to the competing ones. This study can be applied in the forensic field, with clear discrimination between the forged and pristine images.
Allelopathic and Medicinal plant. 26. Millettia speciosa
Authors: Nasiruddin Nasiruddin , Zhangxin Yu , Chen Guangying Ting Zhao , Ji Minghui
Published: December 2020

We grew cucumber in pots in greenhouse for 9-successive cropping cycles and analyzed the rhizosphere Pseudomonas spp. community structure and abundance by PCR-denaturing gradient gel electrophoresis and quantitative PCR. Results showed that continuous monocropping changed the cucumber rhizosphere Pseudomonas spp. community. The number of DGGE bands, Shannon-Wiener index and Evenness index decreased during the 3rd cropping and thereafter, increased up to the 7th cropping, however, however, afterwards they decreased again. The abundance of Pseudomonas spp. increased up to the 5th successive cropping and then decreased gradually. These findings indicated that the structure and abundance of Pseudomonas spp. community changed with long-term cucumber monocropping, which might be linked to soil sickness caused by its continuous monocropping.