bluuebunny/crossref_metadata_2025_split huggingface dataset:
Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials
Authors: Yildirim ME , Karakus S , Kurtulgan HK , Ozer L , Celik SB 
Published: August 2023

Abstract

Objectives
Chromosomal abnormalities are an important cause of especially early miscarriages. The aim of this study was to analyze the chromosomal aberrations and determine the frequencies of numerical and structural chromosome abnormalities in spontaneous abortion materials.

Methods
This was a prospective research and ninety two abortion samples obtained from women who had one or more miscarriages were included in the study. Conventional karyotype analysis was performed on each sample to identify possible chromosomal abnormalities.

Results
By karyotype analysis, 11 polyploidy cases, (9 triploids and 2 tetraploids), 8 trisomies (one of which was mosaic), 2 monosomies (monosomy X), 1 isochromosome, 1 Xq deletion, and 4 translocations were detected in abortion materials. Isochromosome and Xq deletion cases were also mosaic. In addition, five polymorphic variants were revealed. We found higher paternal age in polyploidy cases.

Conclusion
The most common anomaly we found in abortion materials was polyploidy. This was followed by aneuploidy (trisomy and monosomy). Polyploidy (triploidy or tetraploidy) emerged as an important cause in cases of spontaneous abortion. Paternal age may be associated with polyploidy especially triploidy.
Two Brothers from Macedonia with Gitelman Syndrome
Authors: Janchevska A , Tasic V , Jordanova O , Gucev Z , Jenkins L , Jovanovska N , Plaseska-Karanfilska D , Ashton E , Bockenhauer D 
Published: August 2023

Abstract
Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis.
Here we report on two preschool brothers, who presented with a several months’ history of episodes of carpopedal spasms and muscle aches.
The biochemical analyses revealed hypokalemia and hypomagnesemia without metabolic alkalosis. A 24-h urine sample demonstrated hypocalciuria.
The molecular analyses showed that both patients were heterozygous for 3 (likely) pathogenic variants in SLC12A3: c.1805_1806del; p. (Tyr602Cysfs*31), c.2660+1G>A and c.2944 A>T; p. (Ile982Phe). Analysis of the parents showed that the mother was heterozygous for the c.2944 A>T p.(Ile982Phe) variant, and the father carried the other 2 variants (c.1805_1806del and c.2660+1G>A).
Herein we present two children in a family from N. Macedonia with clinical manifestations and electrolyte imbalances suggestive of GS. The results of the tubulopathy next generation sequencing (NGS) panel confirmed the diagnosis. The boys are treated with a high salt diet and oral potassium and magnesium supplements.
Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?
Authors: Aladağ N , Ali Barman H , Şipal A , Akbulut T , Özdemir M , Ceylaner S 
Published: August 2023

Abstract
Fabry disease (FD) is an X-linked, lysosomal glycosphingolipid storage disorder that occurs very rarely. Cardiac involvement may comprise of left ventricular hypertrophy (LVH), arrhythmias, conduction abnormalities, heart failure and valvular abnormalities. The goal of this study was to conduct gene analysis for FD in patients suffering from unexplained LVH. 120 patients over the age of 30 who were diagnosed by echocardiography with idiopathic LVH were included in the study. Patients with severe hypertension, intermediate valve disease such as moderate aortic stenosis, known FD, and a family history of autosomal dominant hypertrophic cardiomyopathy were excluded from the study. GLA gene mutations were studied by Sanger sequence analysis in all patients. Of the 120 total patients included in this study, 69 were female (58%) and 51 were male (42%). The mean age was 60.3 ± 15.7. GLA gene mutations were detected in three male patients. The detected mutations are as follows: NM_000169.2:IVS6-10G>A (c.1000–10G>A), NM_000169.2:c.937G>T (p.D313Y) (p.Asp313Tyr) and NM_000169.2:c.941A>T (p.K314M) (p.Lys314Met). Early diagnosis is of vital importance in FD, which can be treated with enzyme replacement. Genetic screening in patients diagnosed with idiopathic LVH by echocardiography is important in the early diagnosis and treatment of FD. Patients over 30 years of age with idiopathic LVH should be screened for FD. Various new polymorphisms can be detected in genetic screening. Identifying new polymorphisms is important for knowing the true mutations in FD.
Differentially Expressed Circulating Long-Noncoding RNAS in Premature Infants with Respiratory Distress Syndrome
Authors: Bao ZD , Wan J , Zhu W , Shen JX , Yang Y , Zhou XY 
Published: August 2023

Abstract

Purpose
Recent studies have addressed the association between lung development and long-noncoding RNAs (lncRNAs). But few studies have investigated the role of lncRNAs in neonatal respiratory distress syndrome (RDS). Thus, this study aimed to compare the expression profile of circulating lncRNAs between RDS infants and controls.

Methods
10 RDS infants and 5 controls were enrolled. RDS patients were further divided into mild and severe RDS subgroups. Blood samples were collected for the lncRNA expression profile. Subsequently, differentially expressed lncRNAs were screened out. Bioinformatics analysis was applied to establish a co-expression network of differential lncRNAs and mRNAs, and predict the underlying biological functions.

Results
A total of 135 differentially expressed lncRNAs were identified, including 108 upregulated and 27 downregulated lncRNAs (fold-change>2 and P<0.05) among the three groups (non-RDS, mild RDS and severe RDS groups). Of these lncRNAs, four were selected as showing higher fold changes and validated by qRT-PCR. ENST00000470527.1, ENST00000504497.1, ENST00000417781.5, and ENST00000440408.5 were increased not only in the plasma of total RDS patients but also in the severe RDS subgroup. Gene Ontology (GO) and Kyoto encyclopedia of genes and genomes (KEGG) analyses showed that differentially expressed lncRNAs may play important roles in RDS through regulating PI3KAkt, RAS, MAPK, and TGF-β signaling pathways.

Conclusion
The present results found that ENST00000470527.1, ENST00000504497.1, ENST00000417781.5, and ENST00000440408.5 may be invol ved in RDS. This could provide new insight into research of the potential pathophysiological mechanisms of preterm RDS.
The Gender Gap in Aortic Dissection: A Prospective Analysis of Risk and Outcomes
Authors: Banceu Cosmin , Harpa Marius , Brinzaniuc Klara , Tilea Ioan , Varga Andreea , Gliga Mirela Liana , Voidazan Septimiu , Neagu Nicolae , Szabo Dan Alexandru , Banceu Diana , Cristutiu Daiana , Balmos Ionut Alexandru , Puscas Alexandra , Oprean Marvin , Suciu Horatiu 
Published: August 2023

Abstract
Aortic dissection (AD) is a severe cardiovascular condition that could have negative consequences. Our study employed a prospective design and examined preoperative, perioperative, and postoperative data to evaluate the effects of gender on various medical conditions. We looked at how gender affected the results of aortic dissection (AD). In contrast to female patients who had more systemic hypertension (p=0.031), male patients had higher rates of hemopericardium (p=0.003), pulmonary hypertension (p=0.039), and hemopericardium (p=0.003). Dobutamine administration during surgery significantly raised the mortality risk (p=0.015). There were noticeably more women patients (p=0.01) in the 71 to 80 age group. Significant differences in age (p=0.004), eGFR at admission (p=0.009), and eGFR at discharge (p=0.006) were seen, however, there was no association between gender and mortality. In conclusion, our findings highlight that gender may no longer be such an important aspect of aortic dissection disease as we previously thought, and this information could have an important contribution for surgeons as well as for anesthesiologists involved in the management of acute aortic dissection.
Car(Ry)Ing the Past, Present, and Future—A Deep Dive Into Danish Dance Stories
Authors: Bäckman Carolina 
Published: August 2023

Abstract

Danish Dance Stories is an artistic initiative manifested through a series of collegial encounters in 2018 and 2021, which revolves around the sharing of personal (hi)stories across generations and geographic affiliations. Documentation from the events and contributions from participants have been organized as stories on the website danskedansehistorier.dk. By revisiting and through the writing process engaging in conversations with the content of the stories, the text is an attempt to articulate and reflect on issues and potentials of the initiative.
The conversations raise questions about hegemony, hierarchy and access, discussed through the lens of the terminology that constitute the ambiguous title of the initiative; Danish, Dance and History. By leaning onto the knowledge and experience of colleagues, complexity, multiplicity and repetition are proposed as a possible direction for a future local dance community.
Listening Through and With Costume
Authors: Østergaard Charlotte 
Published: August 2023

Abstract
In performance contexts, costume is often perceived as visual expression that is in service of, for example, a choreographer’s vision. I argue that costume is also an aesthetic and poetic language in its own right that allows individuals such as performers and designers to co-conceptualize and co-create performances. In co-creative performance-making processes, I argue that it is critical that designers open-mindedly listen to performers’ experiences of specific costumes and that we (designers and performer) through listening co-creatively explore potentialities and challenges that are embedded in a specific costume. In the co-creative process, we must pay attention and listen carefully to how a specific costume affects specific performers in order to explore the ‘hidden’ performative potentialities and qualities that are imbedded in a specific costume. In this article I will unfold aspects of how listening through and with costume can become a performance-making strategy and unpack details of what listening through and with the costume imply.
Performing With Parkinson’s: Leaving Traces
Authors: Pohjola Hanna , Sivak Eytan , Åström Åsa N. 
Published: August 2023

Abstract
This article aims to explore the experiences of eight dancers, who have Parkinson’s disease (PD), with dance as a performative form of the arts. The data of this qualitative research consists of a semi-structured online questionnaire and a focus group discussion. The data was analyzed using inductive thematic content analysis and approached in an abductive manner in the context of social identity theory. Two main themes emerged from the analysis: embodied social connectedness and de-medicalization of PD.
The current study emphasizes social factors regarding identity while performing with PD. The findings indicate that the dancers’ experiences of watching and being watched refer to a communicative body and its dialogical relationship with other bodies. In conclusion, dancing is experienced as an embodied language with which to communicate, allowing the individual to explore how to become visible in a social environment without one’s social identity being tied to PD but with one’s personal identity. Furthermore, the core of the performative experience is artistry, defined as a limitless entity that metaphorically leaves traces, connecting us as human beings. However, further studies with a larger number of participants would be beneficial.
AVALIAÇÃO DA PREVALÊNCIA DE INFECÇÃO HOSPITALAR E O PERFIL DE RESISTÊNCIA BACTERIANA DAS CEPAS ISOLADAS NA UTI NEONATAL DA MATERNIDADE ESCOLA DE VALENÇA - RJ
Authors: Galdino Cintia Valéria , Aguiar Barbosa Carolina , Rodrigues da Silva1 Manoela , Ribeiro Marques da Silva Ana Paula , Travassos de Melo Jacqueline , Valente Carvalho Elisabeth 
Published: August 2023

Introdução: as infecções hospitalares são mais frequentes e por muitas vezes mais graves em recém-nascidos que em crianças e adultos. Surtos de infecções em berçários com óbito têm sido amplamente divulgados no Brasil e em muitos outros países em desenvolvimento. Além de óbitos de neonatos, elevam os custos com internação. Nesse ínterim, a percepção dos profissionais acerca dos riscos de contaminação cruzada faz-se de suma importância à compreensão da necessidade de adotarem atitudes laborais seguras. Objetivo: avaliar a prevalência de infecções neonatais na Maternidade Escola de Valença RJ, bem como identificar os principais micro-organismos envolvidos e analisar o perfil de resistência aos antibióticos das cepas isoladas. Materiais e métodos: Foi realizado um estudo retrospectivo e prospectivo de análise dos exames de cultura e de antibiograma a partir de materiais biológicos coletados de sítios anatômicos em que se investigam infecções em neonatos internados na UTI neonatal da Maternidade Escola de Valença, no período de junho a dezembro de 2020. Resultados: os principais micro-organismos isolados foram: Escherichia coli, Staphylococcus sp coagulase negativa (SCN), Klebsiella sp, Enterococcus sp, Enterobacter sp e MRSA (Staphylococcus sp resistente à meticilina). Na análise da sensibilidade bacteriana aos antibióticos destaca-se uma cepa de Staphylococcus sp coagulase negativa, com resistência a 70% de todos os antibióticos testados, bem como uma cepa de Escherichia coli com amplo perfil de resistência. Conclusão: tais resultados são importantes para o planejamento dos serviços de saúde, com vistas à realização de intervenções que corroborem para a diminuição da infecção neonatal.
Palavras-chave: infecção hospitalar, neonatos, resistência aos antibióticos
A Qualitative Exploration of the Marketing Challenges Faced by Small and Medium Enterprises in Gauteng, South Africa During COVID-19
Authors: Ramsern Atlanta , Govender Krishna Kistan 
Published: August 2023

Purpose: The aim of this study is to examine how the resurgence of e-commerce in South Africa during the Covid-19 pandemic impacted SMEs using e-commerce resources, and to devise strategies to assist SMEs to become more agile, resilient and better able to cope with disruptions.

Theoretical framework: The coronavirus pandemic highlighted the need to investigate the challenges experienced with e-commerce by SMEs in South Africa since the pandemic disrupted business through the restriction of movement of people which accelerated the use of online shopping. The e-commerce resources and dynamic capabilities of SMEs were analysed to explore the impact they have on the growth of e-commerce.

Methodology: Purposive sampling was used to identify 13 participants (SME owners/managers) for a qualitative study conducted using semi-structured interviews to gain an in-depth understanding of the challenges which impacted their business and marketing model. Thematic analysis was used to analyse the transcripts from the interviews and identify any patterns.

Findings: It was ascertained that the pandemic stimulated the growth of e-commerce among SMEs that invested in unique resources and capabilities. However, those businesses that had not invested in on-line marketing resources were negatively affected and some have had to close.

Practical implications: The practical implication of this research relates to how SMEs could (should) smartly digitise their business model and migrate to e-commerce more effectively and efficiently.

Value: This study may assist SMEs to make more informed decisions when using e-commerce platforms. The findings may also contribute to preparing South African SMEs to adapt more easily, should a similar disruption occur in the future.
ОПТИМИЗАЦИЯ ВЫБОРА ЛЕЧЕБНЫХ МЕРОПРИЯТИЙ ПРИ РЕАБИЛИТАЦИИ КЕЛОИДНЫХ И ГИПЕРТРОФИЧЕСКИХ РУБЦОВ (ОБЗОР НАУЧНОЙ ЛИТЕРАТУРЫ)
Authors: H.S. Karimova  
Published: August 2023

В данной статье рассматриваются принципы выбора неинвазивной терапии келоидных и гипертрофических рубцов и дается краткий обзор современных консервативных методов лечения рубцов.
Суть лечения и оптимизации выбора лечебных мероприятий состоит в вариабельности тестовых заключений и оценке эффективности нескольких методов консервативного лечения.
В результате обзора научной литературы даны практические рекомендации по оптимальному выбора консервативной терапии рубцовых гипертрофий с учетом как индивидуальных особенностей пациента, так и морфофункционального состояния рубцовой ткани.
İDMAN TƏŞKİLATLARINDA BRENDİNQİN ƏHƏMİYYƏTİ VƏ ROLU
Authors: G.F. Hasanova  
Published: August 2023

Brendinq, hər bir biznes müəssisəsinin əhatə dairəsini artırmaq, müştəri bazasını artırmaq və mənfəəti artırmaq üçün öhdəsinə götürdüyü bir fəaliyyətdir. Bununla belə, brendinq fəaliyyətləri və təsirləri ilə fərqlənən bir sənaye var. Bu, dünya üzrə milyonlarla və milyardlarla azarkeşiniz üçün dəyər və assosiasiya yaratmağa kömək edir.
Brend, təşkilatın uzunmüddətli böyüməsi, satış bazarının genişlənməsi və mənfəətin artması üçün zəmin yaradan, onlarla uzunmüddətli uzunmüddətli münasibətlərin qurulmasına töhfə verən müştərilərin, işçilərin, investorların, təchizatçıların cəlb edilməsini və tutulmasını təmin edir. Brend və marka anlayışları bir çox şərhə malikdir.
İdman brendinqi xüsusi idman mədəniyyətinin yaradılmasına və formalaşmasına yönəlmiş kütləvi auditoriya ilə sistemli ünsiyyət prosesidir. İdman brendi öz səylərini sağlam həyat tərzini saxlamaq və bədən tərbiyəsinə marağı oyatmaq zərurəti ideyasını populyarlaşdırmağa yönəldir.
İDMAN BİZNESİNDƏ MARKETİNQ SİYASƏTİ
Authors: N.M. Kalantarly  , M.I. Suleymanov  
Published: August 2023

Məqalədə marketinq siyasətinin məqsədləri, marketinq siyasətitin vəzifələri, marketinq siyasətinin xüsusiyyətləri araşdırılır. Məqalədə həmçinin İdman təşkilatlarında erffektiv marketinq siyasətinin formalaşdırılması, marketinq siyasətinin komponentləri barədə məlumat verilir. Məqalədə bildirilir ki, müasir dövrdə idmanın sahibkarlıq mühitində yeni iştirakçıların meydana çıxması və idman mallarının çeşidinin genişlənməsi rəqabəti gücləndirmiş bunun nəticəsində marketinqin rolunu yenidən nəzərdən keçirilməsini zəruri etmişdir.
Marketinq siyasətinin aləti və ya elementi qiymət siyasətidir. İdman təşkilatının qiymət siyasətinə satış qiymətləri, qiymətqoymanın bütün mərhələləri, malların ilkin qiymətinin müəyyən edilməsi taktikası, qiymətlərin tənzimlənməsi taktikası daxildir. Bu məsələləri həll etməklə marketoloqlar idman malları və xidmətləri üçün ən əlverişli qiymət təyin edirlər ki, bu da təşkilatın mənfəətinin artmasına kömək edir.
Məqalədə qeyd edilir ki, marketinq siyasətinin başqa bir vasitəsi idmn malların marketinq təşviqidir. Təşviq dedikdə məhsulun üstünlükləri haqqında məlumatı potensial istehlakçılara çatdırmaq və onların onu almaq istəyini stimullaşdırmaq üçün müxtəlif fəaliyyətlər məcmusu başa düşülür. Müasir kommersiya idman təşkilatları resellerlər, müştərilər, müxtəlif tərəfdaşlar və s. ilə ünsiyyət qurmaq üçün mürəkkəb kommunikasiya sistemlərindən istifadə edirlər.
EFL ÖYRƏNƏNLƏR ÜÇÜN İNGİLİS DİLİ SAMİTLƏRİNİN TƏSNİFATININ ƏHƏMİYYƏTİ
Authors: O.A. Shukurova  , N.I. Sultanzada  
Published: August 2023

Xarici dilin öyrənilməsi ilk olaraq onun lüğət tərkibindən başlayır. Səslərin düzgün tələffüzü və sözlərin dəqiq oxunuşu öyrəncilər üçün bu səslərin təsnifatını bilmək, (EFL öyrənənlər) ingilis samitlərinin artikulyasiyasını izah etmək və həyata keçirmək üçün onlara özləri sərbəst necə işləyə biləcəklərinə kömək edir. Bununla belə, nəzəri material danışıq ingilis dilində bu səslərin tənzimlənməsi prinsiplərini başa düşməyə ehtiyacı olan hər kəs üçün lazımdır.
Oxucuların əksəriyyəti (EFL tələbələri) dilçilik mövzularının əhəmiyyətindən xəbərdardırlar, lakin bu mövzuların, xüsusən də Fonetika və Fonologiyanın başa düşülməsi üçün kifayət qədər əsas biliklərə malik deyillər. Bu, samitlərdə mövcud olan ümumi təsnifatı fonoloji cəhətdən göstərmək cəhdidir. Çox vaxt, müəllimlərin EFL tələbələrinə oxuduğu mühazirələrdə bir az məlumatlı olan üç etiket varlığını bilsələr də, sanki onlar dəyərsizdir kimi yanaşırlar. Beləliklə, İngilis dilində mövcud olan samit səsləri izah edərkən, EFL təlimatçılarına müxtəlif sinif fəaliyyətləri ilə bu etiketlərə bərabər məlumat vermələri tövsiyə olunur. Xarici dil öyrəncisi əgər bu etiketlərə riayət edərsə təbii ki, sözlərin oxunuşu və tələffüzündə çətinlik yaşamaz.
Realities and prospects of rural mortgages in rural housing policy
Authors: Skal'naya Marina 
Published: August 2023

The analysis of organizational and economic mechanisms for improving the housing conditions of the rural population presented in the article within the framework of the State Program of the Russian Federation "Integrated development of rural territories" for the period of this program in terms of the federal project "Development of housing construction in rural areas and improvement of the level of household improvement" revealed the weaknesses and strengths of the organizational and economic tools used in this project and mechanisms for improving the housing conditions of the rural population and ensuring a sustainable reduction in the proportion of unsuitable for accommodation of the housing stock.The improvement of organizational and economic mechanisms in the field of housing policy in rural areas is aimed at reducing the number of rural families registered for a long time as those in need of housing.
Based on the research, directions are proposed to improve the existing organizational and economic mechanisms for improving the housing conditions of the rural population in order to increase the share of the total area of well-maintained residential premises in rural settlements, including by restructuring budget allocations within the framework of the Federal Project "Development of housing construction in rural areas and improving the level of home improvement".
Analisis Proksimat dan Daya Terima Crackers yang Ditambahkan Anggur Laut (Caulerpa sp)
Authors: Pakpahan Novriaman , Aswat Darul 
Published: August 2023

Anggur laut memiliki kandungan nutrisi yang baik bagi kesehatan. Anggur laut diketahui memiliki rasa asin dan flavour seafood yang sangat kuat sehingga aplikasinya dalam formulasi produk pangan perlu mempertimbangkan daya terima. Penelitian ini bertujuan untuk mempelajari pengaruh penambahan anggur laut terhadap analisis proksimat dan daya terima cracker. Penelitian dilakukan dengan eksperimental laboratororium menggunakan rancangan acak lengkap. Percobaan dilakukan dengan menambahkan bubur anggur laut sebanyak 0 %; 10 %; 20 %; 30 % dan 40 %. Selanjutnya, data dianalisis menggunakan sidik ragam (p<0,05) dan uji Duncan. Hasil pengujian proksimat sampel menunjukkan bahwa penambahan anggur laut mempengaruhi kadar air, kadar lemak, kadar abu dan kadar karbohidrat, namun tidak mempengaruhi kadar protein. Krakers yang ditambahkan anggur laut memiliki kadar air, kadar abu, kadar kabohidrat yang lebih tinggi, dan kadar lemak yang lebih rendah. Penambahan anggur laut yang direkomendasikan dalam penelitian ini adalah sebesar 30%.
Kata Kunci: Anggur laut, proksimat,, hedonik, krakers