bluuebunny/crossref_metadata_2025_split huggingface dataset:
The first results of genetic screening and exploration of genotype-phenotype correlations in retinoblastoma patients from Belarus
Authors: Guryanova I. E. , Liubushkin A. V. , Makarevich O. O. , Litvinova D. Yu. , Vertеlko V. R. , Valochnik A. V. , Polyakova E. A. , Migas A. A. , Konoplya N. E. 
Published: June 2022

Retinoblastoma is an aggressive eye tumor originating from maturing cone precursors in the developing retina and most commonly seen in childhood. In 98 % of patients, retinoblastoma is caused by bi-allelic inactivation of the RB1 tumor suppressor gene. Approximately 40 % of disorders in the RB1 gene are germline. This study aimed to analyze the frequency of germline RB1 variants in a cohort of Belarusian patients with retinoblastoma and to correlate the variants with clinical phenotypes. The study was approved by an Independent Ethics Committee and the Scientific Council of the Belarusian Research Center for Pediatric Oncology, Hematology and Immunology. The study included 20 patients from unrelated families (9 patients with unilateral retinoblastoma, 11 – with bilateral). Two out of eleven patients with bilateral retinoblastoma had a positive family history. Genomic DNA was extracted from peripheral blood mononuclear cells. Using polymerase chain reaction, we obtained fragments including sequences of all exons, regions of splice sites and promoter regions of the RB1 gene. Nucleotide sequences of the obtained amplicons were detected by next-generation sequencing. All clinically significant variants were confirmed by Sanger sequencing. Multiplex ligation-dependent probe amplification (MLPA) or fluorescence in situ hybridization (FISH) were used to detect gross alterations. A genetic analysis of blood relatives was carried out for five probands with detected germline variants. We identified 13 different variants in 14 patients: 38.5 % (n = 5) of them were defects in splice sites; 15.4 % (n = 2) – missense mutations; 15.4 % (n = 2) – small deletions (frameshift); 23% (n = 3) – large deletions; 7.7% (n = 1) – nonsense mutations. Four of these variants had not been previously reported in patients with retinoblastoma from other populations (exon 3: c.350_351delTT, p. Phe117TyrfsTer2; exon 8: c.861+2T>G; exon 24: c.2520+4A>G; Del of exons 16, 17). Germline mutations were detected in 33.3 % (3/9) of patients with unilateral retinoblastoma and in 100% (11/11) of patients with bilateral disease. A genetic screening of relatives showed that three variants were de novo, and two variants were inherited from parents in families with a positive history of retinoblastoma. Here we reported the first results of genetic examination of Belarusian patients with retinoblastoma. Seventy-eight point six per cent (78.6 %) of variants were detected by sequencing, 21.4 % were identified with the help of the MLPA and FISH methods. Among sporadic cases, germline RB1 variants were detected in 66.6 % (12/18) of cases. A full range of screening techniques is required to achieve high sensitivity of detection in retinoblastoma patients. Our study also provides new evidence that will inform patient management and genetic counseling.
Pre-shape calculus and its application to mesh quality optimization
Authors: Luft Daniel , Schulz Volker 
Published: June 2022

Abstract
Deformations of the computational mesh, arising from optimization routines, usually lead to decrease of mesh quality or even destruction of the mesh. We propose a theoretical framework using pre-shapes to generalize the classical shape optimization and calculus. We define pre-shape derivatives and derive corresponding structure and calculus theorems. In particular, tangential directions are featured in pre-shape derivatives, in contrast to classical shape derivatives, featuring only normal directions. Techniques from classical shape optimization and calculus are shown to carry over to this framework. An optimization problem class for mesh quality is introduced, which is solvable with the use of pre-shape derivatives. This class allows for simultaneous optimization of the classical shape objectives and mesh quality without deteriorating the classical shape optimization solution. The new techniques are implemented and numerically tested for 2D and 3D.
Learning causal theories with non-reversible MCMC methods
Authors: Krajewska Antonina 
Published: June 2022

Abstract
Causal laws are defined in terms of concepts and the causal relations between them. Following Kemp et al. (2010), we investigate the performance of the hierarchical Bayesian model, in which causal systems are represented by directed acyclic graphs (DAGs) with nodes divided into distinct categories. This paper presents two non-reversible search and score algorithms (Q
1 and Q
2) and their application to the causal learning system. The algorithms run through the pairs of class-assignment vectors and graph structures and choose the one which maximizes the probability of given observations. The model discovers latent classes in relational data and the number of these classes and predicts relations between objects belonging to them. We evaluate its performance on prediction tasks from the behavioural experiment about human cognition. Within the discussed approach, we solve a simplified prediction problem when object classification is known in advance. Finally, we describe the experimental procedure allowing in-depth analysis of the efficiency and scalability of both search and score algorithms.
Quantum-inspired method of neural modeling of the day-ahead market of the Polish electricity exchange
Authors: Tchórzewsk Jerzy , Ruciński Dariusz 
Published: June 2022

Abstract
The paper presents selected elements of a modelling methodology involving quantization, quantum calculations and dequantization on the example of the neural model of the Day-Ahead Market of the Polish Electricity Exchange. Based on the fundamental assumptions of quantum computing, a new method has been proposed here of converting the real numbers in decimal notation into quantum mixed numbers using the probability modules of quantum mixed number and the principle of superposition, along with a new method of quantum calculations using linear algebra and vectormatrix calculus, and the Artificial Neural Network was taught accordingly. Dequantization of quantum mixed numbers to real numbers in decimal notation using the new method of dequantization has been proposed as well. The operation of the methods introduced was shown on numerical examples.
Voting and MCDM: the pedagogy of the Saari triangle
Authors: Hakula Jaakko 
Published: June 2022

Abstract
The essay has a twofold objective: primarily, to present an application of voting theory as a possible evaluation method, and concurrently, to offer a pedagogic framework, based on that very application. Evaluation and certain notions of preference and value have common semantic roots. By equating preference and choice, we end up amidst social choice (SC) theory and voting methods, also manageable as joint decisions in multiple-criteria decision making (MCDM). With the aid of the Saari triangle some essential differences of pairwise and positional voting rules for up to three alternatives can be depicted. A voting or decision rule does not necessarily follow the true preferences of the actors, but may mirror the problematics of the chosen rule. The Saari triangle makes it possible to visualize some paradoxical results in the exemplary evaluations of digital websites through an imaginary case description via voting and MCDM. As candidates and voters in SC are put to stand for alternatives and criteria in MCDM, the methodological and pedagogical goals of the study are achieved.
On the use of data analysis and OR modelling in MCDM problems: a case analysis – a rejoinder to the paper by Sousa Ribeiro et al
Authors: Owsiński Jan W. 
Published: June 2022

Abstract
Taking as an example the very interesting and motivating paper by Sousa Ribeiro et al. (2021) an attempt is made of providing a couple of insights into the decision making process from the point of view of the potentially helpful aspects of data analysis and OR-related modelling. These are just hints and suggestions, meant primarily to emphasise the multifaceted character of the decision making situations and processes, especially when concerning more complex issues. While the course of the procedure proposed and exemplified in Sousa Ribeiro et al. (2021) is treated as fully correctly and successfully carried out to the end, we wish to show the potential use of information, constituting in a sense a “by-product” of such a procedure, or, actually, of any similar procedure, aimed at supporting decision making.
Morphometric and Genetic Characterization of Honey Bees (Apis mellifera L.) From Thrace Region of Turkey
Authors: Özdil Fulya , Oskay Devrim , Işık Raziye , Yatkın Selen , Aydın Abdurrahman , Güler Ahmet 
Published: June 2022

Abstract
A detailed morphological and genetic characterization of honey bees from the Thrace and west Anatolian regions of Turkey was surveyed. A total of 1650 worker bee samples (110 colonies) were evaluated with the forty-one morphological characters and 217 honey bee samples were analyzed via DNA sequencing of the tRNAleu-cox2 region. In this study, three different populations, Thrace (Tekirdağ, Kırklareli and Edirne provinces), Island Gökçeada, and western Anatolia were formed based on morphometrics, since the Marmara Sea has taken a very strong barrier role in this formation. The morphological similarity of the Thrace population was supported by the genetic analysis. The sequencing of the tRNAleu-cox2 region revealed twenty-two different haplotypes, sixteen of which are novel. The C2d, macedonica-like haplotype, was the most widely found haplotype (48%) all around the Thrace region. Along with the C2d haplotype, previously published C2s, C2v, C2i, C2j, and C2h haplotypes, and the newly found haplotypes were also observed but less frequently. In this study, Thrace honey bees were found to more similar to A. m. macedonica through the mtDNA sequence analysis, whereas carnica-like honey bees were only found near the Istranca mountain ridges, Kırklareli province and macedonica-like honey bees all around the Thrace region. According to our results, some of the Thrace honey bee populations may be both A. m. carnica and A. m. macedonica but the assignment to the latter subspecies seems more likely due to its geographic range.
Logistics Strategy Research for Efficient Operation of Airports and Ports
Authors: Yoon Donghun 
Published: June 2022

Abstract
The competition between airports and ports is intensifying, and countries are actively implementing and promoting policies to strengthen their competitiveness and role of a logistics hubs. Airports and ports play a key role in national competitiveness because they serve as logistics platforms for air transport and sea transport. Major countries are improving airports and ports as part of the competitive struggle and actively pursuing policies to gain a competitive advantage as logistics platforms and hubs. In order to improve efficiency, it is essential to develop a logistics strategy. In this study, we analyse the changes in transport volume in major airports and ports in South Korea, China, and Hong Kong, and assess South Korea’s logistics strategy and competitiveness. We present and discuss studies on the importance of logistics strategies for efficient operation of airports and ports.
Does 12-Week Aerobics Training Influence Body Composition in Middle-Aged Women?
Authors: Małgorzata Charmas , Dorota Różańska 
Published: June 2022

Abstract

Introduction. It is very important to determine body composition, as it plays a significant role in the formation of many vital functions of the human. The purpose of this research was to assess the effect of 12-week aerobics training on body composition in middle-aged women.

Material and methods. Thirteen women aged 35-50 who did not practice any sport actively took part in 12-week aerobics training. Body weight and height were measured, body mass index (BMI) and waist/hip ratio (WHR) were calculated. Body composition parameters: total body water (TBW), extracellular water (ECW) and intracellular water (ICW), fat mass (FM), free fat mass (FFM) muscle mass (MM), and basal metabolic rate (BMR) were measured using BIA method.

Results. The 12-week aerobics training elicited increases in ICW, FFM, MM, and BMR and a decrease in hip circumference. Twelve weeks without exercise (control group, n = 10) caused an increase in body mass, BMI and hip circumference. No statistically significant changes were recorded in body composition parameters in the control group.

Conclusions. The lack of any physical activity shows that the maintenance of that status can cause overweight followed by obesity.
The effect of low dose teophillyne on the improvement of copd assessment test score, interleukin-8 level and sputum neutrophil count in patients with stable COPD
Authors: Sutanto Yusup Subagio , Sutanto Magdalena - , Kurniawan Hendra - 
Published: June 2022

Background: Harmful particles from cigarette smoke induces an inflammatory immune response in the lungs, followed by the release of proinflammatory cytokines such as TNF-α and IL-8 and damages histone deacetylase 2 (HDAC2) in the cell core leading to glucocorticoid resistance in COPD. Low dose Theophylline of below 10mg/L has an anti-inflammatory effect by activating HDAC. This study aimed to analyze the effect of low dose theophylline on the clinical improvement of stable COPD patients assessed by the COPD Assessment Test (CAT) score, IL-8 level, and sputum neutrophil count.Methods: We conducted a quasi-experimental clinical study using a pre-post test in stable COPD patients visiting the Pulmonary Outpatient Clinic of DR. Moewardi hospital Surakarta, between July and September 2016. The samples were taken using a consecutive sampling technique, assigned into two groups, treatment, receiving standard therapy plus 70 mg low dose theophylline per 8 hours, and control receiving standard therapy only. CAT score, IL-8 level, and sputum neutrophil count were measured at baseline and four weeks after treatment.Results: The treatment group's CAT score decreased by 3.67±3.58 pg/ml and increased by 2.40±3.38 pg/ml in the control group (p=0.003). IL-8 level decreased by 4.31±13.06 pg/ml in the treatment group and increased by 0.88±13.89 pg/ml in the control group (p=0.116). The sputum neutrophil count decreased in both treatment and control groups by 4.00 ±40.33 pg/ml and 2. 87±39. 91 pg/ml (p=0.939).Conclusion: Statistically low dose theophylline significantly lowers the CAT score of stable COPD patients. It also decreases IL-8 level and sputum neutrophil count, although it is not significant.
Etika batuk pada masa pandemic COVID-19
Authors: Saminan Saminan 
Published: June 2022

Astrak. Batuk merupakan gejala penyakit yang paling umum di jumpai baik pada anak maupun pada orang dewasa, batuk menjadi salah satu gejala penyakit saluran napas disamping sesak, mengi dan sakit dada. Pada saat batuk, benda asing (sekret) dalam saluran pernapasan terbawa keluar oleh udara ekpirasi sehingga paru tetap dalam keadaan bersih. Etika batuk dapat mengurangi penyebaran sekret saluran pernapasan yang mengandung partikel infeksius. Gejala paling umum yang terlihat akibat COVID-19 yaitu batuk, demam, sesak napas, kelelahan dan diare yang disebabkan pernah kontak dengan orang yang sudah terinfeksi COVID-19, bila sudah positif maka organ yang paling mudah terganggu adalah paru-paru. Kata Kunci : Etika Batuk, Covid-19, Pandemi ABSTRACT. Coughing is the most common symptom of disease in both children and adults, coughing is a symptom of respiratory disease besides tightness, wheezing and chest pain. When coughing, foreign objects (secretions) in the respiratory tract are carried out by the expiratory air so that the lungs remain clean. Cough etiquette can reduce the spread of respiratory secretions containing infectious particles. The most common symptoms seen due to COVID-19 are coughing, fever, shortness of breath, fatigue and diarrhea caused by having contact with people who have been infected with COVID-19, if they are positive, the organs that are most easily disturbed are the lungs. Keyword : Cough, Covid-19, Pandemic
Invasive Dermatophytosis in HIV/AIDS Patient by Zoophilic Trichophyton verrucosum
Authors: Mahdani Wilda - 
Published: June 2022

Invasive dermatophytosis is a dermatophyte infection characterized by fungal invasion into deeper skin tissue including the dermis and subcutaneous areas. Herein, a man who was an HIV/AIDS sufferer was reported to develop an unusually invasive dermatophytosis in the form of nodules and ulceration. His CD4+ cells count was 88 cells/µl with a percentage of 1.87%. Self-medication with topical antibiotics did not respond. Microbiological examination was carried out including direct potassium hydroxide preparation and fungal culture. The etiologic diagnosis of invasive dermatophytosis by Trichophyton verrucosum was established. This is one of the zoophilic fungus that causes ringworm in cattle. It was suspected that the patient was inoculated due to contact with fomites containing fungi while working as a construction worker. Dermatophytes can cause atypical infections with a completely unexpected appearance in immunocompromised patients. The diagnosis is largely determined by a high level of clinical suspicion followed by microbiological examination.
Pengaruh pemberian Monosodium glutamat peroral terhadap gambaran histopatologi jantung pada tikus putih (Rattus norvegicus) jantan galur Wistar
Authors: Rahayu Mulyati Sri Sri , Yuziani Yuziani , Nadira Cut Sidrah 
Published: June 2022

Abstrak. Monosodium glutamat (MSG) diketahui mempunyai pengaruh yang cukup besar bagi kesehatan jika dikonsumsi secara berlebihan. Pemberian MSG dalam dosis tertentu dapat menyebabkan stres oksidatif yang berujung pada kerusakan seluler. Penelitian ini bertujuan untuk mengetahui pengaruh pemberian MSG peroral terhadap gambaran histopatologis jantung pada tikus putih (Rattus norvegicus) jantan galur wistar. Penelitian ini merupakan true experimental laboratory dengan rancangan Post test control group design dengan sampel tikus putih (Rattus norvegicus) jantan galur wistar yang dibagi dalam 4 kelompok. Sampel diberi larutan MSG dengan 3 dosis berbeda selama 21 hari. Organ jantung kemudian diambil, ditimbang dan dibuatkan preparat histologi dengan pewarnaan Hematoxilin-Eosin. Data persentase nekrosis sel dianalisis menggunakan uji Kruskal-Wallis dan dilanjutkan dengan Mann-Whitney Post-Hoc Test. Hasil penelitian menunjukkan rerata persentase kerusakan histologi jantung pada masing-masing kelompok K, P1, P2 dan P3 berturut-turut sebesar 10,27%, 15.93%, 23,91 % dan 27,68 %, dengan p value 0,000 untuk uji Kruskal Wallis dan p value 0,004 untuk Mann Whitney baik antara kelompok kontrol dengan kelompok P1, P2, maupun P3. Kesimpulan: pemberian MSG peroral pada ketiga kelompok perlakuan secara bermakna mempengaruhi tingkat kerusakan histologi jantung tikus putih (Rattus novegicus) jantan galur wistar. Kata kunci: Monosodium glutamat, stres oksidatif, berat jantung, histopatologi jantung, nekrosis jantung Abstract. Monosodium glutamate (MSG) is known to have a considerable effect on health if excessively consumed. Administering MSG in certain doses can cause oxidative stress which leads to cellular damage. This study aims to determine the MSG oral administration effect on the histopathological features of male white rats (Rattus norvegicus) Wistar strain’s heart. This research is a true experimental laboratory with a post-test control group design. The samples were divided into 4 groups and given MSG solution with 3 different doses for 21 days. The heart organs were then harvested, weighed and processed into histological preparations by Hematoxylin-Eosin staining. The percentage of cell necrosis data were analyzed using the Kruskal-Wallis test and followed by the Mann-Whitney Post-Hoc Test. The result showed that mean percentage of heart histological damage in each group K, P1, P2 and P3 were 10.27%, 15.93%, 23.91% and 27.68% respectively, with a p value of 0.000 for the Kruskal Wallis test and p value. 0.004 for Mann Whitney both between the control group and the P1, P2, and P3 groups. Conclusion: The administration of MSG orally to the three treatment groups of male white rats (Rattus novegicus) Wistar strain significantly affected the histological damage level of the heart. Keywords: Monosodium glutamate, oxydative stress, heart weight, cardiac histopathology, cardiac necrosis
Interaksi obat potensial pada pasien usia lanjut
Authors: Suardi Hijra Novia , Suryawati Suryawati , Mulia Vera Dewi 
Published: June 2022

Interaksi obat beresiko terjadi pada kelompok usia lanjut karena penggunaan jumlah obat yang banyak (polifarmasi). Resiko interaksi obat ini dapat meningkat karena perubahan anatomi dan fisiologi tubuh yang menyebabkan penurunan fungsi dari organ yang terlibat dalam proses absorpsi, metabolisme, distribusi dan ekskresi obat. Artikel ini memaparkan beberapa interaksi obat potensial akibat penggunaan lebih dari satu obat pada saat yang bersamaan. Interaksi obat tersebut meliput penggunaan warfarin, ACE-inhibitor dan Digoksin.
Kaheksia kanker dan tatalaksana nutrisi pada penderita kanker
Authors: Nasution Huwainan Nisa 
Published: June 2022

Abstrak. Gangguan status nutrisi pada penderita kanker yang disebut dengan kaheksia kanker merupakan masalah yang serius. Kaheksia kanker dikarakteristikkan dengan penurunan berat badan, kelemahan otot dan anoreksia. Insidensi kaheksia kanker berkisar 40-80% pada penderita kanker dan menjadi penyebab kematian pada 30-50% penderita kanker. Kaheksia kanker dapat terjadi pada seluruh tahapan penderita kanker, baik pada tahap dini maupun penderita yang telah sembuh dari kanker. Kaheksia kanker dapat diterapi dengan intervensi nutrisi, terapi non-farmakologik dan terapi farmakologik.Kata kunci: kanker, kaheksia kanker, nutrisi, tatalaksana nutrisi Abstract. Impaired nutritional status in cancer patients known as cancer cachexia is a serious problem. Cancer cachexia is characterized by weight loss, muscle weakness and anorexia. The incidence of cancer cachexia ranges from 40-80% in cancer patients and the cause of death in 30-50% of cancer patients. Cancer cachexia can occur at all stages of cancer patients, both at an early stage or in patients who have recovered from cancer. Cancer cachexia can be treated with nutritional interventions, non-pharmacological therapy and pharmacologic therapy. Keyword: cancer, cancer cachexia, nutrition, nutrition therapy