bluuebunny/crossref_metadata_2025_split huggingface dataset:
Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager
Authors: Popescu D.E. , Marian D. , Zeleniuc M. , Samoila Ch. , Belengeanu V. 
Published: August 2023

Abstract
Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16.
Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)
Authors: Cobanogullari H. , Akcan N. , Ergoren M.C. 
Published: August 2023

Abstract
Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal trisomy 13, 18, and 21 and often for sex chromosomal aneuploidies (SCAs). Although the testing is also used for sex chromosomal aneuploidies, it is not as efficient as it is for common trisomies. In this particular study, we present a case for whom the NIPT diagnosis was originally 45,X and who was diagnosed with mixed gonadal dysgenesis 45,X/46,XY after birth. A 38-year-old [G3P3] pregnant woman underwent NIPT at 15 weeks’ gestation and was found to be at probable risk for 45,X. Because cordocentesis is an invasive procedure, the pregnant woman did not want to undergo cordocentesis. Consequently, postnatal cytogenetic analysis was performed and the baby’s karyotype was shown to be 45,X/46,X,+mar?. No numerical and/or structural anomalies were observed in the karyotypes of parents and siblings. Based on the microarray analysis of the analyzed sample, one copy of the X chromosome was detected in all cells and the presence of one copy of the Y chromosome was detected in a ~40% mosaic state: arr(X) x1,(Y)x1[0.4]. SRY gene duplication on Y chromosome was confirmed by fluorescence in situ hybridization (FISH) and microarray analysis. The patient’s clinical examination showed ambiguous genitalia (clitoromegaly) and dysmorphic facial features. The baby underwent surgery for aortic coarctation. The results were consistent with a genetic diagnosis of 45,X/46,XY mixed gonadal dysgenesis. Genetic counselling was offered to the family. In conclusion, NIPT still has potential limitations in correctly identifying sex chromosomes and mosaicism that may mislead clinicians and families.
Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
Authors: Parezanović M , Ilić N , Ostojić S , Stevanović G , Ječmenica J , Maver A , Sarajlija A 
Published: August 2023

Abstract
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 450 patients have been diagnosed worldwide with this inherited neurotransmitter disorder. We report on a five-year-old male patient, homozygous for the pathogenic variant (NM_170740:c.1265G>A) in ALDH5A1 presenting with an unexpected association of typical SSADH deficiency manifestations with bilateral sensorineural hearing loss (SNHL). Brainstem evoked response audiometry (BERA) testing showed mid-frequency sensorineural hearing damage that suggested a hereditary component to SNHL. Whole exome sequencing (WES) failed to discern other genetic causes of deafness. Several variants of uncertain significance (VUS) detected in genes known for their role in hearing physiology could not be verified as the cause for the SNHL. It is known that central auditory processing depends on a delicate balance between excitatory and inhibitory neurotransmission, and GABA is known to play a significant role in this process. Additionally, excessive concentrations of accumulated GABA and GBH are known to cause a down-regulation of GABA receptors, which could have an adverse influence on hearing function. However, these mechanisms are very speculative in context of SNHL in a patient with inherited disorder of GABA metabolism. Injury of the globi pallidi, one of hallmarks of SSADH deficiency, could also be a contributory factor to SNHL, as was suspected in some other inborn errors in metabolism. We hope that this case will contribute to the understanding of phenotypic complexity of SSADH deficiency.
Androgen Insensitivity Syndrome DUE to Non-Coding Variation in the Androgen Receptor Gene: Review of the Literature and Case Report of a Patient with Mosaic c.-547C>T Variant
Authors: Noveski P , Plaseski T , Dimitrovska M , Plaseska-Karanfilska D 
Published: August 2023

Abstract
Sexual development (SD) is a complex process with strict spatiotemporal regulation of gene expression. Despite advancements in molecular diagnostics, disorders of sexual development (DSD) have a diagnostic rate of ~50%. Androgen insensitivity syndrome (AIS) represents the most common form of 46,XY DSD, with a spectrum of defects in androgen action. Considering the importance of very strict regulation of the SD, it is reasonable to assume that the genetic cause for proportion of the DSD lies in the non-coding part of the genome that regulates proper gene functioning. Here we present a patient with partial AIS (PAIS) due to a mosaic de novo c.-547C>T pathogenic variant in the 5′UTR of androgen receptor (AR) gene. The same mutation was previously described as inherited, in two unrelated patients with complete AIS (CAIS). Thus, our case further confirms the previous findings that variable gene expressivity could be attributed to mosaicism. Mutations in 5′UTR could create new upstream open reading frames (uORFs) or could disrupt the existing one. A recent systematic genome-wide study identified AR as a member of a subset of genes where modifications of uORFs represents an important disease mechanism. Only a small number of studies are reporting non-coding mutations in the AR gene and our case emphasizes the importance of molecular testing of the entire AR locus in AIS patients. The introduction of new methods for comprehensive molecular testing in routine genetic diagnosis, accompanied with new tools for in sillico analysis could improve the genetic diagnosis of AIS, and DSD in general.
Complications After Laparoscopic Sleeve Gastrectomy in a Series of 186 Patients
Authors: Stoyanov Toni I. , Cascales-Sánchez Pedro , Moreno Agustina Martínez - 
Published: August 2023

Summary
A retrospective study analyzed the complications in 186 patients who underwent laparoscopic sleeve gastrectomy (LSG). One hundred eighty-four patients were operated on at the University Hospital Centre of Albacete between May 2006 and September 2022. Two patients with early postoperative complications received surgical treatment in other centers. The overall postoperative complication rate (including GERD) was 13.9%. Ten patients (5.38%) had complications in the early postoperative period. In 4 cases (2.15%), there was stapler-line leakage. Abdominal bleeding associated with hemoperitoneum occurred in four patients (2.15%) immediately after the surgery due to bleeding from the suture line. In the long-term follow-up, two patients (1.08%) had gastric tube strictures requiring endoscopic pneumatic balloon dilation (EPBD). Fourteen patients (7.53%) presented with de novo Gastroesophageal Reflux, of whom 7 (3.76%) required revision surgery to Laparoscopic Rouxen-Y Gastric Bypass (LRYGB). Laparoscopic sleeve gastrectomy, in our experience, is a secure bariatric procedure with a low rate of morbidity and mortality, both post-surgical and long-term.
Climate impact on flood changes – an Austrian-Ukrainian comparison
Authors: Snizhko Sergiy , Bertola Miriam , Ovcharuk Valeriya , Shevchenko Olga , Didovets Iulii , Blöschl Günter 
Published: August 2023

Abstract
This study compares the flood regime of rivers in Ukraine and Austria over the last decades. We used data from mountain and lowland watersheds, where floods are caused by different processes. In order to identify possible shifts in the day of occurrence of annual flood maxima, we apply the kernel density method to the time series of two subperiods (1960–1987 and 1988–2015). We use the Mann Kendall test at a 5% significance level to identify significant positive or negative trends in the series of annual maximum discharges. In Austria, we observe an increasing trend in summer floods associated with increasing precipitation. In the lowland areas of Ukraine, a clear reduction in spring floods is observed, linked to shallower snow packs in a warming climate. In the Ukrainian Carpathians, on the other hand, where floods occur throughout the year, an increase in the portion of liquid precipitation during the cold period of the year leads to earlier floods and an increase in the probability of flooding in winter.
Stable isotopes of oxygen and hydrogen in precipitation and river water in Georgia
Authors: Holko Ladislav , Melikadze George , Todadze Mariam , Chitanava Ramaz , Chankvetadze Aleksandre , Chikadze Tornike , Gventsadze Alexander , Gaphrindashvili Merab 
Published: August 2023

Abstract
The article presents the first comprehensive evaluation of the isotopic composition of precipitation and runoff in Georgia. It is based on data from the monitoring of δ18O and δ2H in monthly precipitation at eleven precipitation stations and monthly runoff from five large, mostly nested catchments in Georgia, collected between the years 2013 and 2022. The data represent different climatic and altitudinal conditions ranging from the wet western part of Georgia affected by the Black Sea to the dry eastern part of the county presumably affected also by the air masses from the Caspian Sea. Specific conditions affecting the isotopic composition of precipitation and river water seem to occur close to the main ridge of the Greater Caucasus Mountains. We defined the National Meteoric Water Line (NMWL) and the National River Water Line (NRWL) for Georgia as well as the Local Meteoric Water Lines (LMWLs) and River Water Lines (RWLs) for individual precipitation stations and river gauges and investigated their slopes and intercepts. Altitude gradients of δ18O and δ2H in the rivers were similar to those in precipitation (–0.16‰ and –1.2‰ per 100 m of altitude for δ18O and δ2H, respectively). The rivers were supplied from precipitation of the colder part of the year (November/December to March/April) while the isotopic composition of precipitation in the remaining warmer part of the year was clearly detached from that of the rivers. The isotopic signal in precipitation was dampened in the rivers by a factor of 5–6. The scaled line-conditioned excess (lc-excess*) did not indicate any significant deviations of river waters from meteorological conditions in the catchments.
Notes on the Distribution of Roots Modulo Primes of a Polynomial IV
Authors: Kitaoka Yoshiyuki 
Published: August 2023

Abstract
For polynomials f (x),g
1(x),g
2(x)over ℤ, we report several observations about the density of primes p for which f (x) is fully splitting at p and

{

g

1

(
r
)

p

}

<

{

g

2

(
r
)

p

}

\left\{ {{{{g_1}\left( r \right)} \over p}} \right\} < \left\{ {{{{g_2}\left( r \right)} \over p}} \right\}

for some root r of f (x) ≡ 0 mod p.
WORKSHOP AKUNTANSI SATUAN KERJA PERANGKAT DAERAH (SKPD) UNTUK SISWA JURUSAN AKUNTANSI SMK NEGERI 1 GODEAN
Authors: Darmawan Yanto , Jati Budhi Purwantoro , Bawai Rahimah 
Published: August 2023

<p><strong><em>Abstract.</em></strong> <em>SMK need to cooperate with the Dunia Usaha/Dunia Industri (DUDI) and universities to produce high quality graduates. One of such Cooperation is held guest teachers at school. Politeknik YKPN held community service activities as a guest teacher that conducts accounting workshop for Regional Work Units (SKPD) for students of SMK Negeri 1 Godean Yogyakarta which attended by 106 class XII students majoring in accounting on October, 25-28 2021. The workshop activities include work on pre-test and post-test quizzes, discuss and deepening the theory and SKPD accounting practice. The results of the workshop activities shows that there was an increase between post-test scores compared to pre-test scores. we can conclude that workshop activities increase the skill and students knowledge in field of SKPD accounting. The workshop activities also well received by the workshop participants in terms of simplicity understanding the workshop material, advantage of the workshop material and how the guest lecture presented the workshop material.</em></p><p> </p><p><strong>Abstrak.</strong> SMK perlu bekerjasama dengan Dunia Usaha/Dunia Industri (DUDI) dan perguruan tinggi agar mampu menghasilkan lulusan yang memiliki mutu tinggi. Salah satu bentuk kerjasama tersebut adalah mendatangkan guru tamu ke sekolah. Politeknik YKPN melaksanakan kegiatan pengabdian masyarakat yaitu bertindak sebagai guru tamu yang melaksanakan workshop akuntansi Satuan Kerja Perangkat Daerah (SKPD) untuk siswa SMK Negeri 1 Godean Yogyakarta yang diikuti oleh 106 siswa kelas XII jurusan akuntansi pada tanggal 25-28 Oktober 2021. Kegiatan workshop meliputi pengerjaan kuis pre tes dan pos tes, pendalaman materi dan diskusi serta praktik pencatatan akuntansi SKPD. Hasil kegiatan workshop menunjukkan bahwa terdapat kenaikan nilai pos tes dibandingkan nilai pre tes. Hal ini mengandung makna bahwa kegiatan workshop dapat meningkatkan pengetahuan dan ketrampilan siswa di bidang akuntansi SKPD. Kegiatan workshop juga dipersepsikan baik oleh para siswa peserta workshop ditinjau dari kemudahan memahami materi workshop, kemanfaatan materi workshop serta cara narasumber menyampaikan materi workshop.</p><br /><div id="gtx-trans" style="position: absolute; left: 418px; top: 416.741px;"> </div>
Algoritma J48 untuk Pemodelan Sistem Prediksi Tingkat Kerawanan Banjir dengan Visualisasi Web GIS
Authors: Asih Nia Kurnia , Eliyani Eliyani 
Published: August 2023

Banjir merupakan bencana yang sering terjadi di Indonesia. Banjir yang terjadi di Indonesia merupakan kombinasi antara faktor alam dan faktor non alam (antropogenik). Banyak wilayah rawan banjir yang jumlah penduduknya cukup tinggi dikarenakan kurangnya pemahaman jika wilayah yang ditempati merupakan wilayah rawan banjir. Untuk itu dibuat suatu Pemodelan Sistem Pendukung Keputusan Prediksi Tingkat Kerawanan Banjir menggunakan Metode Decision Tree Algortima J48 dengan menggunakan empat parameter yaitu curah hujan rata-rata, kelerengan tanah, penggunaan lahan dan jarak antara wilayah kelurahan dengan sungai. Akurasi yang dihasilkan dari Algoritma J48 tersebut adalah 85,97%. Nilai akurasi tersebut dapat dinyatakan tinggi sebagai model prediksi. Model Prediksi tersebut digunakan sebagai acuan perancangan Sistem Prediksi Tingkat Kerawanan Banjir Di Kota Administrasi Jakarta Timur yang terdapat 65 kelurahan didalamnya. Hasil prediksi tingkat kerawanan banjir dari sistem ini divisualisasikan dalam bentuk web map menggunakan Web GIS.
Aplikasi Hasil Belajar Siswa Berbasis K13 (Studi Kasus : SMK N 6 Pontianak)
Authors: Abdullah Nabil , Sukamto Anggi Srimurdianti , Novriando Haried 
Published: August 2023

Dalam dunia pendidikan di sekolah diperlukan suatu sistem yang dapat mengelola data siswa baik itu profil siswa, kehadiran siswa, ekstrakurikuler siswa maupun nilai mata pelajaran dimana data-data tersebut sangat dibutuhkan untuk menghasilkan laporan hasil belajar siswa yang dalam hal ini dilaporkan dalam setiap satu semester. Aplikasi Hasil Belajar Siswa Berbasis K13 SMK N 6 Pontianak memiliki enam level pengguna yaitu admin (bid. kurikulum), guru mapel, wali kelas, kepala sekolah, siswa dan ortu siswa melalaui suatu aplikasi berbasis website. Pada aplikasi ini guru mapel dapat mengelola nilai mata pelajaran setiap siswa mulai dari input nilai harian, nilai sikap, nilai UTS, nilai UAS dan akan otomatis menghasilkan nilai akhir mata pelajaran. Untuk wali kelas dapat mengelola data laporan siswa sampai menghasilkan suatu laporan hasil belajar dan dapat di cetak kedalam format PDF. Untuk kepala sekolah pada aplikasi ini dapat melihat semua data hasil belajar siswa disemua kelas dan jurusan disetiap semester. Untuk siswa pada aplikasi ini menampilkan nilai disetiap mata pelajaran dan statistik perkembangan nilai pengetahuan dan nilai keterampilan siswa tersebut disetiap semester dan tahun ajaran. Pada aplikasi ini juga terdapat fitur chat yang akan memudahkan komunikasi antara guru mapel, wali kelas, kepala sekolah dan orang tua siswa mengenai proses belajar siswa disekolah. Perancangan website menggunakan DFD, ERD, dan Flowchart. Aplikasi dibangun berbasis website dengan menggunakan teknik pemrograman terstruktur yang dalam hal ini menggunakan bahasa pemrograman PHP pada sisi back-end sistem dan menggunakan HTML, CSS, JavaScript dan Framework Bootstrap pada sisi front-end sistem. Hasil pengujian aplikasi ini menggunakan metode Black Box untuk menguji fungsionalitas sistem dengan menggunakan aplikasi Katalon Studio dan UAT untuk menguji kelayakan aplikasi dengan mendapatkan nilai hasil pengujian yaitu 93,6% yang menunjukkan bahwa Aplikasi Hasil Belajar Siswa Berbasis K13 SMK N 6 Pontianak sangat memuaskan dan sesuai harapan dari pihak SMK N 6 Pontianak.
Efektivitas Penggunaan Media Sosial TikTok Sebagai Platform Pemasaran Digital Produk Olahan Buah Frutivez (@hellofrutivez)
Authors: Azhari Sartika , Ardiansah Irfan 
Published: August 2023

Frutivez merupakan produk camilan sehat berasal dari puree buah yang diolah menggunakan teknologi dehidrasi yang disajikan dalam bentuk strips. Seiring dengan kondisi pandemi COVID-19 di Indonesia, masyarakat cenderung untuk mengubah gaya hidupnya menjadi lebih sehat, sehingga saat ini Frutivez memiliki peluang pemasaran produk yang lebih besar untuk memperkenalkan produknya kepada konsumen. Dalam memasarkan produknya, Frutivez memanfaatkan digital marketing sebagai platform pemasaran onlinenya, khususnya di media sosial. Pada tahun 2020, terdapat media sosial yang mengalami perkembangan pesat hingga menjadi terkenal di dunia yaitu TikTok. Pengguna aplikasi TikTok di Indonesia didominasi oleh kaum milenial. Frutivez memanfaatkan TikTok sebagai media pemasaran dengan menghadirkan konten video menarik yang memungkinkan audiens TikTok untuk mencari tahu lebih lanjut tentang produk Frutivez pada akun TikTok @hellofrutivez. Namun, sebagian besar tren pada media sosial TikTok terus mengalami perubahan setiap harinya sehingga perusahaan harus siap dan cepat tanggap menghadapi perubahan dan melakukan evaluasi dengan tujuan mencapai efektivitas pemasaran. Dalam penelitian ini, efektivitas penggunaan media sosial TikTok pada akun TikTok @hellofrutivez diukur menggunakan analisis deskriptif kuantitatif. Model analisis pertama yang digunakan adalah Three Layers of Social Media yaitu, media analysis, conversation analysis, dan network analysis. Model analisis kedua yang digunakan adalah Analisis SWOT. Hasil penelitian ini menunjukkan hasil pengukuran terhadap konten video yang telah ditayangkan memberikan respon positif pada setiap kontennya dan menghasilkan engagement tertinggi pada konten video proses pembuatan banana strips . Hasil dari analisis SWOT pada akun TikTok @hellofrutivez memberikan beberapa strategi yang dapat digunakan untuk mengembangkan pemasaran online Frutivez di media sosial TikTok.
Klasifikasi Bahasa Isyarat Amerika menggunakan Convolutional Neural Network
Authors: Siswanto Felicia Devina , Lestari Caecilia Citra , Tanuwijaya Evan 
Published: August 2023

Bahasa Isyarat adalah bahasa untuk orang - orang yang memiliki kesulitan mendengar maupun bicara. Tetapi bahasa isyarat bukanlah bahasa yang banyak digemari oleh masyarakat, sehingga orang yang memiliki disabilitas tersebut akan semakin kesulitan. Pada jurnal ini akan menjelaskan mengenai klasifikasi bahasa isyarat Amerika dengan menggunakan Convolutional Neural Network (CNN). Pada penelitian ini akan dilakukan beberapa penelitian menggunakan parameter berbeda seperti pada preprocessing, penelitian akan dilakukan dengan melihat parameter horizontal flip. Selanjutnya penelitian juga dilakukan dengan melihat epoch. Penelitian ini dilakukan untuk memantau akurasi dan akurasi validasi. Model yang dibuat pada penelitian ini nilai akurasi yang lebih tinggi saat memprediksi huruf v, dan n. Hasil nilai akurasi dari penelitian ini adalah 82.1%Sign Language is a language for people who have hearing and speech difficulties. But sign language is not a language that is favored by many people, so people with disabilities will find it increasingly difficult. This journal will explain the classification of American sign language using the Convolutional Neural Network (CNN). In this study, several studies will be carried out using different parameters such as in preprocessing, research will be carried out by looking at the horizontal flip parameter. Furthermore, research was also carried out by looking at the epoch. This study was conducted to monitor the accuracy and accuracy of the validation. The model made in this study has a higher accuracy value when predicting the letters v, and n. The result of the accuracy value of this study is 82.1%
Perbandingan Pengambilan Keputusan Dalam Strategi Pemasaran di Kantor Pos Purworejo 54100
Authors: Haryanto Niko Dwi , Buana Anas Alrasyid Putrawidya 
Published: August 2023

Pengambilan keputusan yang cermat sangat dibutuhkan dalam menentukan strategi pemasaran, melalui berbagai pertimbangan, serta banyak pilihan alternatif yang tersedia, pihak manajemen diharapkan bisa dalam menentukan keputusan yang baik. Tujuan pada penelitian ini yaitu menentukan alternatif strategi pemasaran perusahaan dan membandingkan metode MOORA dengan WASPAS. Metode yang digunakan pada penelitian yaitu metode MOORA dan WASPAS, serta teknik perbandingan eksponensial. Hasil penelitian menunjukkan bahwa nilai alternatif dari MOORA lebih tinggi dibandingkan dengan WASPAS, dan hasil peringkat alternatif strategi pemasaran dengan kedua metode tersebut adalah sama. Disimpulkan bahwa peringkat 1 dan 2 alternatif strategi pemasaran yaitu differentiation dan differentiation focus, serta hasil perbandingan menunjukkan metode MOORA lebih singkat, cepat dan tepat dibandingkan dengan metode WASPAS.
Analisis Algoritma Jaringan Syaraf Tiruan untuk Mengidentifikasi Bantuan Beasiswa dengan Model Backpropagation
Authors: Ardiansyah Muhammad , Syamsu Nurcahyani , Rahmat Muhammad Alim , Rismayani Rismayani 
Published: August 2023

Pandemi akibat COVID-19 yang tersebar hampir di seluruh Indonesia menimbulkan kerusakan dalam berbagai bidang dan berdampak negatif bagi kehidupan masyarakat, termasuk bidang ekonomi yang terpuruk saat ini. Karena banyaknya angka perusahaan yang diberhentikan sementara, dampaknya terhadap pendapatan orang tua dan siswa sangat besar, dan menjadi sulit untuk membayar uang setiap semesternya ketika pendapatan menurun. Maka dari itu, dalam penelitian ini kami melakukan analisis komparatif terhadap kelayakan mahasiswa penerima bantuan beasiswa. Dalam koputasi data, menggunakan jaringan syaraf tiruan dengan menggunakan metode supervised learning yaitu model backpropagation. Model ini dapat memecahkan masalah yang kompleks. Hasil dari penelitian ini dapat menentukan yang berhak mendapatkan beasiswa terhadap mahasiswa yang mendaftarkan diri di program beasiswa.