bluuebunny/crossref_metadata_2025_split huggingface dataset:
Formulation and Evaluation of instant granules from Ketapang Badak fruit (Ficus lyrata Warb) using wet granulation method as an antioxidant supplement
Authors: Putriana Norisca Aliza , Mardawati Efri , Wardhana Yoga Windu , Afifah Nurul , Wulandari Anting , Wira Dwi Wahyudha , Masruchin Nanang 
Published: June 2022

Free radicals are naturally produced from the body's metabolic processes, but the excessive amount of free radicals can interfere with human health because they cause oxidative stress. Therefore we need antioxidants that can protect against free radicals. Ficus lyrata W. is one of the antioxidant sources. This study aims to formulate instant granules from the Ethanol extract of Ficus lyrata W. using the wet granulation method. The formula is optimized using the Design Expert with the two-level factorial method. The optimized factors are xanthan gum 0,8-1,5% and PVP 0,5-5%. Granules are evaluated and analyzed using a Design Expert. The results obtained showed that Formula 4 with a combination of xanthan gum 0,8% and PVP 5% is the best formula, which the evaluation result is Loss On Drying (LOD) 3,28%, Flowability 16.043 ± 0.221 (g/s), Angle of Rest 21.77 ± 0.862, no precipitate for15 minutes, pH = 4.7, dispersed in 31 seconds and sedimentation time is 52.213 ± 1.7878 (minutes), the results of the antioxidant activity test of the ethanol extract of Ficus lyrata is 38,27 µg/ml, and instant granules is 145,02 µg/ml.Keywords: Antioxidant, Ficus lyrata W., Instant granules, Design expert
Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability
Authors: Türkyılmaz A , Geckinli BB , Tekin E , Ates EA , Yarali O , Cebi AH , Arman A 
Published: June 2022

Abstract
Developmental delay (DD) is a condition wherein developmental milestones and learning skills do not occur at the expected age range for patients under 5 years of age. Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and cause–effect relationships. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Array-based comparative genomic hybridization aCGH) can detect copy number variations (CNVs) on the whole genome at higher resolution than conventional cytogenetic methods. The diagnostic yield of aCGH was 15.0–20.0% in DD/ID cases. The aim of this study was to discuss the clinical findings and aCGH analysis results of isolated and syndromic DD/ID cases in the context of genotype-phenotype correlation. The study included 139 cases (77 females, 62 males). Data analysis revealed 38 different CNVs in 35 cases. In this study, 19 cases with pathogenic CNVs (13.6%) and five cases with likely pathogenic CNVs (3.5%) were found in a total of 139 cases diagnosed with DD/ID. When all pathogenic and likely pathogenic cases were evaluated, the diagnosis rate was 17.1%. The use of aCGH analysis as a first-tier test in DD/ID cases contributes significantly to the diagnosis rates and enables the detection of rare microdeletion/microduplication syndromes. The clear determination of genetic etiology contributes to the literature in terms of genotype-phenotype correlation.
Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation
Authors: Sayın Kocakap DB , Gündüz Ö , Özer L , Durak M 
Published: June 2022

Abstract
Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de novo NF1 mutations. Neurofibromatosis type 1 has an incidence rate of 1/2600–3000 individuals, making it a major public health problem. The product of the NF1 gene, the neurofibromin protein, is known to play a critical role in cellular differentiation and in tumor suppression. Due to widespread expression of neurofibromin in numerous tissues, particularly in cutaneous and nervous systems, NF1 mutations cause a wide variety of clinical symptoms, including cutaneous and ocular lesions such as café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, choroidal freckling and internal tumors. In this article, we report the cases of two siblings with NF1, a 21-year-old male and his 24-year-old sister, who have the same c.5392C>T mutation on the NF1 gene (p.Gln1798 Ter). Café au lait macules and freckling were the prominent clinical features in both siblings. However, a plexiform neurofibroma was also observed on the left arm of the sister, which is known to carry potential risk for malignant transformation. Although the mutation was previously described once, to the best of our knowledge, no case report has been published since then.
Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature
Authors: Țuțulan-Cuniță A , Pavel AG , Dimos L , Nedelea M , Ursuleanu A , Neacșu AT , Budișteanu M , Stambouli D 
Published: June 2022

Abstract
Chromosome 17q12 microdeletion syndrome is a contiguous gene deletion syndrome caused by an 1–2 Mb loss, characterized by multicystic dysplastic kidneys or other urinary system anomalies starting in utero, including autism or maturity-onset diabetes of the young in its postnatal phenotype. Here, we report on three cases (two prenatal and one postnatal) with distinct and novel clinical presentations as compared with a large number of reviewed patients, thus emphasizing the phenotypic variability of this syndrome and the consequent difficulties in genetic counselling. Prenatal hyperechogenic multicystic kidneys, as well as other urinary tract anomalies, should be considered a marker, therefore indicating the necessity of comprehensive genetic testing, and autism should also be acknowledged as a possible clinical presentation, postnatally.
de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita
Authors: Kocheva SA , Gjorgjievska M , Martinova K , Antevska-Trajkova Z , Jovanovska A , Plaseska-Karanfilska D 
Published: June 2022

Abstract
Dyskeratosis congenita (DC) is a clinically and genetically heterogeneous, multisystem inherited syndrome with a very high risk for bone marrow failure (BMF) and cancer predisposition. The classical clinical form of DC is characterized by abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. Bone marrow failure is considered to be an important and major complication of DC and the leading cause of death which develops in around 85% of cases. A number of genes involved in telomere maintenance are associated with DC, such as genes that encode the components of the telomerase complex (TERT, DKC1, TERC, NOP10, and NHP2), T-loop assembly protein (RTEL1), telomere capping (CTC1), telomere shelterin complex (TINF2), and telomerase trafficking protein (TCAB1). Mutations in TINF2 have been reported in 11–20% of all patients with DC and have been associated with bone marrow failure. Here we report on a 19-month old boy with very early presentation of bone marrow failure as a first clinical manifestation of DC. Upon first admission, the patient presented with thrombocytopenia and macrocytic anemia. Soon after, his blood counts deteriorated with the development of pancytopenia and aplastic anemia. Four months later, he developed nail dystrophy and skin hyperpigmentation. A de novo heterozygous pathogenic variant c.845G>A, p.(Arg282His) was located in exon 6 of TINF2 gene and was identified via clinical exome sequencing. The findings confirmed the diagnosis of DC. This is the first case with DC due to TINF2 pathogenic variant reported in North Macedonia.
Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies
Authors: Wang E , Fan X , Nie Y , Zheng Z , Hu S 
Published: June 2022

Abstract
Multiple second heart field (SHF) transcription factors are involved in cardiac development. In this article we evaluate the relationship between SHF transcription factor polymorphisms and congenital heart disease (CHD). Ten polymorphisms were used for genotyping, and three of these were used for the luciferase assay. The risk of CHD was increased 4.31 times and 1.54 times in the C allele of GATA5: rs6061243 G>C and G allele of TBX20: rs336283 A>G, respectively. The minor alleles of SMYD1: rs1542088 T>G, MEF2C: rs80043958 A>G and GATA5: rs6587239 T>C increased the risk of the simple types of CHD. The minor alleles of GATA5: rs41305803 G>A and MEF2C: rs304154 A>G increased the risk of tetralogy of Fallot (TOF). The minor alleles of TBX20: rs336284 A>G and SMYD1: rs88387557 T>G only increased the risk of a single ventricle (SV). Luciferase assays revealed that the minor alleles of rs304154 and rs336284 decreased the transcriptional levels of MEF2C and TBX20, respectively (p<0.01). When combined with HLTF, the G promoter showed a higher expression level than the A promoter in rs80043958 (p<0.01). Our findings suggest that minor alleles of SNPs in the exonic and promoter regions of transcription factors in the SHF can increase the risks of sporadic CHD.
48,XYYY: A Rare Case Report
Authors: Sabnis AS , Bhusare D 
Published: June 2022

Abstract
A case study of a 4 year old child with hypospadias and cryptorchidism on the right side is presented. Combined analysis by Karyotype and FISH showed a mosaic pattern of 48, XYYY (73%); 47,XYY (7%); 46,XY (7%) and 45,X (13%). Apart from hypospadias and cryptorchidism there were no significant phenotypic changes observed. Inheritance of this clonal abnormality was ruled out as the karyotype patterns of the child's father and brother both showed a normal karyotype. For further management, genetic counseling, and the correction of hypospadias and the undescended testis were recommended.
Probabilistic Liquefaction Analysis Using Standard Penetration Test
Authors: Kamel Filali , Badreddine Sbartai 
Published: June 2022

Abstract
The Youd etal liquefaction resistance curves developed in 2001 to characterize the cyclic resistance of soil based on SPT test are the most used in the context of the Seed and Idriss simplified procedure as a deterministic model. These curves were developed from a modified database of Seed etal. in 1985 with the assumption that the actual peak shear stress (τd) induced at depth h is always less than that predicted by the simplified procedure (τr) of Seed and Idriss (rd= τd/τr<1). By using a suite of equivalent linear site response analyses to adjust the dynamic and the simplified shear stress at depth h, Filali and Sbartai showed in 2017 that the dynamic peak shear stress for some earthquakes is greater than the simplified peak shear stress (rd>1). As in this case, the assumption of the simplified procedure is not verified, Filali and Sbartai have proposed a corrector factor (RC) in the range where rd
>1 to adjust the deformable and rigid body. In this paper, we will present a probabilistic study for the evaluation of the liquefaction potential using a database based on SPT measurement compiled after the Chi-Chi Taiwan earthquake, in which the cyclic stress ratio is evaluated using the proposed corrector factor. The objective of this study is to present a probabilistic shape of the cyclic resistance ratio (CRR) curves based on the original simplified method of Seed and Idriss and the corrected version and a new formulation for computing the probability of liquefaction.
PENGGUNAAN METODE SUPPORT VECTOR MACHINE UNTUK KLASIFIKASI SENTIMEN E-WALLET
Authors: Filemon Bryan , Mawardi Viny Christanti , Perdana Novario Jaya 
Published: June 2022

In Google Play Store there are lots of application ready to be explored and downloaded. Google Play Store is a place where many developers can sell applications that they have made. Apart from being a place for searching and downloading applications, Google Play Store can also be used to conduct a research. E-Wallet is one of a technological development that can be used to do many transactions. Doing transaction with e-wallet can be done anywhere you want. E-wallet in Indonesia is growing very rapidly especially in the present time where covid-19 is growing rapidly. This is one of the reasons why many people now using e-wallet for doing transcations. Many interesting promotions that were given is also one of the reason why people start using e-wallet. This research had the objective to visualize people’s emotion on e-wallet based on user opinion in Google Play Store. The research stage starts from scrapping data from Google Play Store, preprocessing data, classification with Support Vector Machine, evaluation with confusion matrix. Data were scrapped from google play store using google_play_scrapper API. This research uses OVO review of 500 data, DANA review of 500 data, LinkAja review of 500 data. The classification results will then be evaluated using a confusion matrix. The highest accuracy results will be used as a model for the classification stage. The classification results will be displayed in the form of tables and pie charts that describe the percentage results of sentiment classification.
PEMBUATAN GAME 2D HORROR “BLACK, WHITE, AND …” DENGAN PLATFORM WINDOWS
Authors: Kevin Kevin , Pragantha Jeanny , Haris Darius Andana 
Published: June 2022

"Black, White And ..." is a 2D Horror game with a sub-genre psychological horror game developed for Windows PC. This game was made using Unity as the game engine with C# as the programming language. In this game, the player will play as an amnesiac girl who has just awoken. The goal of this game is to search for a way out from the strange black and white world. The player will have to survive from the enemy and traps with the ability to move from the black world to the white world and vice versa. to ward the enemies, the player had to scream. The game has implemented a Voice Recognition feature to differentiate between scream or not scream. The testing has been done by using blackbox testing, alpha testing, and beta testing method. The test results show that most of the respondents experience a sense of fear and tension as well as the intention to play the game again.
PERANCANGAN SISTEM PENJUALAN BERBASIS WEB PADA TOKO SMART JAYA PHONE
Authors: Reinaldi Reinaldi 
Published: June 2022

Pada zaman yang modern ini smart phone sangat dibutuhkan untuk memenuhi kebutuhan sehari-hari seperti bertukar informasi dan lain-lain. Maka dari itu bisnis penjualan smartphone sangat menguntungkan. Namun dalam penjualan ini dibutuhkan system informasi untuk menyimpan, mendata dan juga menjaga data customer, transaksi dan juga produk. Maka dari itu dibuat lah aplikasi web yang dapat memenuhi fungsi dari toko tersebut. Untuk metode perancangannya digunakan metode waterfall karena sesuai dengan kebutuhan Analisa. Dan untuk pembuatan aplikasi digunakan, Php dengan framework flutter dan CodeIgniter. Dan databasenya menggunakan mysql. Juga di dalam aplikasi terdapat fungsi forecast untuk membantu pengadaan barang dengan menggunakan metode Single Exponential Smoothing agar mendapatkan nilai peramalan.Di dalam aplikasi yang sudah dibuat dibagi menjadi tiga User yaitu Admin yang dapat melakukan pengadaan barang dan retur barang Kembali kepada supplier, juga ada kasir yang dapat melakukan penjualan kepada Customer, dan terakhir ada Owner yang dapat mengakses laporan dari Admin dan Kasir.
SISTEM INFORMASI MONITORING AKTIVITAS ANAK BERBASIS WEB DAN MOBILE
Authors: Samuel Alexander , Lina Lina , Arisandi Desi 
Published: June 2022

Before entering elementary school level, children will learn through PAUD (Early Childhood Education). Paud activities are various. Seeing from this PAUD activity, of course parents need to see and monitor the activities of their children if parents cannot accompany them at school. The information system for monitoring PAUD children’s activities is expected to be able to help parens to see the children’s activities carried out while at school. This system is made using two platforms, namely web-based whose main feature monitoring children’s activities, and mobile-based to view data that has been entered from the web
SISTEM PENDUKUNG KEPUTUSAN PEMBELIAN SEPEDA MOTOR MENGGUNAKAN METODE ELECTRE
Authors: Andrew Andrew , Arisandi Desi , Lauro Manatap Dolok 
Published: June 2022

This system is built to help candidate of motorcycle buyers to determine which motorcycle is fit for them depending on criteria and their needs. This system uses 9 criteria in purchasing a motorcycle and uses the ELECTRE (Elimination Et Choix Traduisant La Realite) method to produce the best alternative of motorcycle for candidate of motorcycle buyers. The result of making this system are taken based on the average score obtained from the results of the questionnaire distributed to 7 testers. The average score is 40 out of a maximum score of 50 or in percentage is 80%. The accuration of ELECTRE method applied to the system is 100%. From this score, it concludes that application ELECTRE method in this application can quite help candidate of motorcycles buyers to determine best options of motorcycle to be purchased according to their criteria and needs
PENDETEKSIAN PENGGUNAAN MASKER WAJAH DENGAN METODE CONVOLUTIONAL NEURAL NETWORK
Authors: Budiman Bunardi , Lubis Chairisni , Perdana Novario Jaya 
Published: June 2022

“Face Mask Detection Using the Convolutional Neural Network” is a PC based program that aims to detect and classify human beings whether a person is using a mask or not with access through a webcam camera. This program is created using the Python language with several libraries. The classification of face masks uses the Convolutional Neural Network method with the MobileNetV2 architecture. Meanwhile, human face detection uses the Haarcascade Classifier. How the program works is by accessing the connected camera and if the person detected is wearing a mask, the person will be labeled "using a mask" and given a green box to mark the detection along with the analysis value, whereas if not, it will be labeled "not using a mask" and a red box with also the predicted value. From the test results, it can be proven that the accuracy program is good enough to detect the use of face masks with an average object detection accuracy of 88.53% and the classifier for the use of mask an average of 84.45%.
PENDETEKSIAN SEL DARAH PUTIH DARI CITRA PREPARAT DENGAN CONVOLUTIONAL NEURAL NETWORK
Authors: Danny Danny , Lina Lina , Chris Arlends 
Published: June 2022

White Blood Cells play an important role as parts of the immune system by fighting against viruses, bacteria and potentially harmful foreign objects that enter the human body. The amount of white blood cells can indicate a certain disease or infection within the human body. This research aims to develop a system that can automatically detect and locate the location of white blood cells in a slide image that is stained or not stained. By not staining blood cell images, it can save time and resources that are normally used in white blood cell detection. This system is built using convolutional neural networks (CNN), a deep learning architecture. The CNN model is used for detecting white blood cells in stained images and is trained with 528 images and the model that is used for detecting white blood cells in unstained images is trained with 264 images. Bounding box regression is used to predict the location of white blood cells. The experiment test results show the detection accuracy for the stained images reach 53.85% and for the unstained images has 54.69% accuracy.
PENDETEKSIAN SEL DARAH PUTIH DARI CITRA PREPARAT DENGAN YOU ONLY LOOK ONCE
Authors: Andrianson Fredriek , Lina Lina , Chris Arlends 
Published: June 2022

Blood is a fluid that in the body, in the blood there are platelets, red blood cells and white blood cells. White blood cells play an important role in maintaining the body's defense from viruses or bacteria. Many diseases are related to white blood cells, to find out these conditions you need to do an examination to identify white blood cells. Based on this, this design aims to detect white blood cells on images of blood preparations. The method used is You Only Look Once to detect white blood cells in images of blood preparations. The test results showed that the proposed method obtained an accuracy rate of 100% for the detection of white blood cells with stained images and white blood cells without stained images obtained an accuracy rate of 76.5%.
PEMBUATAN GAME MOBILE ARCADE “COVID GO AWAY” BER PLATFORM ANDROID
Authors: Soemitha Geovanny Valerian , Pragantha Jeanny , Haris Darius Andana 
Published: June 2022

“Covid Go Away” is an arcade game with a campaign theme. This game is played on Android devices with minimum API Level Android 4.4 "Kit Kat" (API Level 19). The program used to make this game is Unity 2018.4.15f1 with the C# programming language. Game "Covid Go Away" consists of 6 mini games. Each mini game content information product in life during a pandemic. If the player's score has reached a certain score, the player will get a prize which can be seen on the main menu. Based on the results of beta testing with 34 respondents, the game "Covid Go Away" has succeeded in delivering information about healthy living as well as informing players to maintain their health.
PERANCANGAN SISTEM PENCARIAN LAGU INDONESIA MENGGUNAKAN QUERY BY HUMMING BERBASIS LONG SHORT-TERM MEMORY
Authors: Hartono Henry , Mawardi Viny Christanti , Hendryli Janson 
Published: June 2022

Song identification dan query by humming is an application that is developed using Mel-frequency cepstral coefficients (MFCC) and Long Short-Term Memory (LSTM) algorithm.The application purpose is to detect and recognize humming from the input data. In this application the humming input will be divided into two parts, namely the training audio and test audio. For the training audio, the training audio will be divided into two process stages, namely recognizing humming and searching for the unique features of a humming audio.To recognize the humming feature, the humming will be processed using the MFCC method. After obtaining a part of the MFCC Features, the MFCC features will be saved as a vector model. The feature that has been extracted will be learned by the LSTM method. For the test audio of the stages carried out as in the training audio, after the MFCC Feature is detected, an introduction will be made based on learning that has been done with the LSTM method to obtain output in the form of a song name that is successfully recognized and detected will be labeled by the application.