bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus
Authors: Dong Yi , Zhang Yi , Sheng Yue , Wang Fang , Liu Lv , Fan Liang-Liang 
Published: October 2023

Background: Heterozygous mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene are one of the causes generating developmental and epileptic encephalopathies. So far, only eleven mutations in the DHDDS gene have been identified. The mutation spectrum of the DHDDS gene in the Chinese population remains unclear.Methods: In this study, we enrolled a Chinese family with myoclonus and/or epilepsy and intellectual disability. The epilepsy and myoclonic tremor were improved after deep brain stimulation (DBS) of the subthalamic nucleus (STN) treatment. Whole exome sequencing and Sanger sequencing were employed to explore the genetic variations of the family.Results: Subsequent to data filtering, we identified a recurrent pathogenic mutation (NM_001243564.1, c.113G&gt;A/p.R38H) in the DHDDS gene in the proband. Sanger sequencing further validated that the presence of the mutation in his affected mother but absent in the health family members. Further bioinformatics analysis revealed that this mutation (p.R38H), located in an evolutionarily conserved region of DHDDS, was predicted to be deleterious.Discussion: In this report, we present the first case of intractable epilepsy and/or myoclonus caused by p.R38H mutation of the DHDDS gene in the Chinese population. Furthermore, this study represents the third report of autosomal dominant familial inheritance of DHDDS mutation worldwide.
Involvement of palms and soles in patients with autoimmune bullous diseases: a comparative analysis of a diagnostically relevant localization
Authors: Jałowska Magdalena , Spałek Maciej , Bowszyc-Dmochowska Monika , Gornowicz- Porowska Justyna , Dmochowski Marian 
Published: October 2023

IntroductionThe involvement of palms and soles is variable among disease entities belonging to autoimmune bullous diseases (AIBD). We present our own clinical-laboratory experience concerning presentations of skin lesions on palms and soles in the pemphigus diseases group, pemphigoid diseases group, epidermolysis bullosa acquisita (EBA), and lichen planus pemphigoides (LPP) and discuss the pertinent literature.MethodsLesions on palms and soles were assessed retrospectively on the basis of just photographic archives from the beginning of 2014 to March 2023. We comparatively evaluated 462 Slavic patients with AIBD.ResultsPalmoplantar involvement was observed in only 21 patients with AIBD (12 females and 9 males). There was no statistically significant difference between palmoplantar involvement in the pemphigus diseases group compared to the pemphigoid diseases group and no statistically significant difference between the pemphigus diseases group compared to the subepithelial AIBD.DiscussionNevertheless, particularly in LPP and EBA, and occasionally in pemphigus diseases and pemphigoid diseases groups of AIBD, localization on palms and soles may be diagnostically important at the clinical level.
Dysregulated metal ion homeostasis underscores non-canonical function of CD8+ T cell during COVID-19
Authors: Khare Kriti , Chattopadhyay Partha , Devi Priti , Mehta Priyanka , Raina Aakarshan , Liu Chinky Shiu Chen , Tardalkar Kishore , Joshi Meghnad G. , Pandey Rajesh 
Published: October 2023

IntroductionSeveral efforts have been made to describe the complexity of T cell heterogeneity during the COVID-19 disease; however, there remain gaps in our understanding in terms of the granularity within.MethodsFor this attempt, we performed a single-cell transcriptomic analysis of 33 individuals (4 healthy, 16 COVID-19 positive patients, and 13 COVID-19 recovered individuals).ResultsWe found CD8+ T cell-biased lymphopenia in COVID-19 patients compared to healthy and recovered individuals. We also found an optimal Th1/Th2 ratio, indicating an effective immune response during COVID-19. Expansion of activated CD4+ T and NK T was detected in the COVID-19-positive individuals. Surprisingly, we found cellular and metal ion homeostasis pathways enriched in the COVID-19-positive individuals compared to the healthy and recovered in the CD8+ T cell populations (CD8+ TCM and CD8+ TEM) as well as activated CD4+ T cells.DiscussionIn summary, the COVID-19-positive individuals exhibit a dynamic T cell mediated response. This response may have a possible association with the dysregulation of non-canonical pathways, including housekeeping functions in addition to the conventional antiviral immune response mediated by the T cell subpopulation. These findings considerably extend our insights into the heterogeneity of T cell response during and post-SARS-CoV-2 infection.
The G protein biased serotonin 5-HT2A receptor agonist lisuride exerts anti-depressant drug-like activities in mice
Authors: Pogorelov Vladimir M. , Rodriguiz Ramona M. , Roth Bryan L. , Wetsel William C. 
Published: October 2023

There is now evidence from multiple Phase II clinical trials that psychedelic drugs can exert long-lasting anxiolytic, anti-depressant, and anti-drug abuse (nicotine and ethanol) effects in patients. Despite these benefits, the hallucinogenic actions of these drugs at the serotonin 2A receptor (5-HT2AR) limit their clinical use in diverse settings. Activation of the 5-HT2AR can stimulate both G protein and β-arrestin (βArr) -mediated signaling. Lisuride is a G protein biased agonist at the 5-HT2AR and, unlike the structurally-related lysergic acid diethylamide (LSD), the drug does not typically produce hallucinations in normal subjects at routine doses. Here, we examined behavioral responses to lisuride, in wild-type (WT), βArr1-knockout (KO), and βArr2-KO mice. In the open field, lisuride reduced locomotor and rearing activities, but produced a U-shaped function for stereotypies in both βArr lines of mice. Locomotion was decreased overall in βArr1-KOs and βArr2-KOs relative to wild-type controls. Incidences of head twitches and retrograde walking to lisuride were low in all genotypes. Grooming was decreased in βArr1 mice, but was increased then decreased in βArr2 animals with lisuride. Serotonin syndrome-associated responses were present at all lisuride doses in WTs, but they were reduced especially in βArr2-KO mice. Prepulse inhibition (PPI) was unaffected in βArr2 mice, whereas 0.5 mg/kg lisuride disrupted PPI in βArr1 animals. The 5-HT2AR antagonist MDL100907 failed to restore PPI in βArr1 mice, whereas the dopamine D2/D3 antagonist raclopride normalized PPI in WTs but not in βArr1-KOs. Clozapine, SCH23390, and GR127935 restored PPI in both βArr1 genotypes. Using vesicular monoamine transporter 2 mice, lisuride reduced immobility times in tail suspension and promoted a preference for sucrose that lasted up to 2 days. Together, it appears βArr1 and βArr2 play minor roles in lisuride’s actions on many behaviors, while this drug exerts anti-depressant drug-like responses without hallucinogenic-like activities.
Comparisons and associations among anthropometric indices of first and second division and assistant soccer referees
Authors: Samarein Meysam Rostamzadeh , Samanipour Mohammad Hossein , Asjodi Foad , Shokati Pooya , Fallahi Zanyar , Brownlee Thomas E. , Brito João Paulo , Bragazzi Nicola Luigi , Oliveira Rafael 
Published: October 2023

IntroductionBody composition is an important predictor of performance and a key component of health and physical fitness. Therefore, the purposes of this study were to compare soccer referees of the first and second divisions and field assistant referees from Iran and to analyze associations of a body shape index (ABSI), body adiposity index (BAI), abdominal volume index (AVI), body roundness index (BRI), conicity index (ConI), and body mass index (BMI) with body fat percentage (%BF).MethodsA total of 270 male soccer referees from the first (n = 124) and second (n = 72) divisions and assistant referees (n = 74) participated in this study. Skinfold thickness (measured at the chest, biceps, triceps, subscapular, abdominal, iliac crest, and front thigh), height, weight, hip circumference, and waist circumference were assessed to evaluate waist-to-height ratio (WHtR), %BF, and also ABSI, BRI, BAI, ConI, and AVI according to the ISAK protocol.ResultsThe main results indicated differences in WHR, WHtR, ABSI, BRI, AVI, ConI, and BF% with the assistant referees presenting higher values (p &lt; 0.05). When considering the backward selection model, there were some associations with %BF in each group, specifically BMI, BAI, and ABSI in the first division; BMI, WHR, and ABSI in the second division; and BMI in the assistant referee group (all p &lt; 0.05).DiscussionThe present study did not confirm the hypothesis that the first-division referees presented better body composition-related variables than the second division or assistant referees. Instead, it showed that the assistant referees that participated in both divisions showed a tendency to higher values which suggests that the level of division is not a major factor when analyzing body composition.
Passionate hearts, torn loyalties: navigating the interplay between fandom and romance
Authors: Levental Orr , Lev Arey Dalit , Lev Assaf 
Published: October 2023

IntroductionThe current study presents a thorough investigation of the attitudes and emotions expressed by the spouses and girlfriends of sports fans within the context of their long-term relationships. Its primary objective is to explore the potential ramifications that surface when individuals become deeply invested in a competitive sport, demonstrating intense emotional connections, broad knowledge, unwavering loyalty, and active engagement in fan-related activities.MethodsThe research methodology applied in this study involved conducting semi-structured interviews with a sample of twelve spouses and girlfriends of fans.ResultsThe principal findings elucidate four distinct themes that shed light on the intersection of fandom and romantic relationships. These themes include: “that’s what I signed up for”; “fandom as a gendered activity”; “the good, the bad, and the ugly”; and “sports fandom as an addiction.”DiscussionThe study concludes by highlighting the crucial cultural context at work. The social criticism expressed by the interviewees toward non-traditional gender behaviors displayed by their partners serves as a cautionary message. These criticisms aim to preserve and uphold male dominance in sports, thereby reinforcing the notion of their unquestioned supremacy. Consequently, we argue that, within this context, latent aggressive behavior in men is perceived as a strategy to maintain their monopolistic control over sports domains.
Machine learning algorithms for predicting determinants of COVID-19 mortality in South Africa
Authors: Chimbunde Emmanuel , Sigwadhi Lovemore N. , Tamuzi Jacques L. , Okango Elphas L. , Daramola Olawande , Ngah Veranyuy D. , Nyasulu Peter S. 
Published: October 2023

BackgroundCOVID-19 has strained healthcare resources, necessitating efficient prognostication to triage patients effectively. This study quantified COVID-19 risk factors and predicted COVID-19 intensive care unit (ICU) mortality in South Africa based on machine learning algorithms.MethodsData for this study were obtained from 392 COVID-19 ICU patients enrolled between 26 March 2020 and 10 February 2021. We used an artificial neural network (ANN) and random forest (RF) to predict mortality among ICU patients and a semi-parametric logistic regression with nine covariates, including a grouping variable based on K-means clustering. Further evaluation of the algorithms was performed using sensitivity, accuracy, specificity, and Cohen's K statistics.ResultsFrom the semi-parametric logistic regression and ANN variable importance, age, gender, cluster, presence of severe symptoms, being on the ventilator, and comorbidities of asthma significantly contributed to ICU death. In particular, the odds of mortality were six times higher among asthmatic patients than non-asthmatic patients. In univariable and multivariate regression, advanced age, PF1 and 2, FiO2, severe symptoms, asthma, oxygen saturation, and cluster 4 were strongly predictive of mortality. The RF model revealed that intubation status, age, cluster, diabetes, and hypertension were the top five significant predictors of mortality. The ANN performed well with an accuracy of 71%, a precision of 83%, an F1 score of 100%, Matthew's correlation coefficient (MCC) score of 100%, and a recall of 88%. In addition, Cohen's k-value of 0.75 verified the most extreme discriminative power of the ANN. In comparison, the RF model provided a 76% recall, an 87% precision, and a 65% MCC.ConclusionBased on the findings, we can conclude that both ANN and RF can predict COVID-19 mortality in the ICU with accuracy. The proposed models accurately predict the prognosis of COVID-19 patients after diagnosis. The models can be used to prioritize COVID-19 patients with a high mortality risk in resource-constrained ICUs.
Treatment of recurrent acute tonsillitis—a systematic review and clinical practice recommendations
Authors: Guntinas-Lichius Orlando , Geißler Katharina , Mäkitie Antti A. , Ronen Ohad , Bradley Patrick J. , Rinaldo Alessandra , Takes Robert P. , Ferlito Alfio 
Published: October 2023

BackgroundThere is an ongoing debate on the indications for tonsil surgery in both children and adults with recurrent acute tonsillitis. The aim is to provide practical recommendations for diagnostics and treatment for recurrent acute tonsillitis including evidence-based decision making for tonsillectomy.MethodsA systematic literature search in PubMed, Embase, Web of Science, and ScienceDirect from 2014 until April 2023 resulted in 68 articles. These were the basis for the review and a comprehensive series of consensus statements on the most important diagnostics and indications for both non-surgical and surgical therapy. A consensus paper was circulated among the authors and members of the International Head and Neck Scientific Group until a final agreement was reached for all recommendations.ResultsThe differentiation between sore throat and tonsillitis patient episodes is mostly not feasible and hence is not relevant for diagnostic decision making. Diagnostics of a tonsillitis/sore throat episode should always include a classification with a scoring system (Centor, McIssac, FeverPAIN score) to estimate the probability of a bacterial tonsillitis, mainly due to group A streptococcus (GAS). In ambiguous cases, a point-of-care test GAS swab test is helpful. Consecutive counting of the tonsillitis/sore throat episodes is important. In addition, a specific quality of life score (Tonsillectomy Outcome Inventory 14 or Tonsil and Adenoid Health Status Instrument) should be used for each episode. Conservative treatment includes a combination of paracetamol and/or non-steroidal anti-inflammatory drugs. In case of high probability of bacterial tonsillitis, and only in such cases, especially in patients at risk, standard antibiotic treatment is initiated directly or by delayed prescription. Tonsillectomy is indicated and is highly effective if the patient has had ≥7 adequately treated episodes in the preceding year, ≥5 such episodes in each of the preceding 2 years, or ≥3 such episodes in each of the preceding 3 years. An essential part of surgery is standardized pain management because severe postoperative pain can be expected in most patients.ConclusionIt is necessary to follow a stringent treatment algorithm for an optimal and evidence-based treatment for patients with recurrent acute tonsillitis. This will help decrease worldwide treatment variability, antibiotic overuse, and avoid ineffective tonsillectomy.
The Impact of Multimorbidity on All-Cause Mortality: A Longitudinal Study of 87,151 Thai Adults
Authors: Feng Xiyu , Sarma Haribondhu , Seubsman Sam-Ang , Sleigh Adrian , Kelly Matthew 
Published: October 2023

Objectives: To investigate associations between multimorbidity, socio-demographic and health behaviour factors, and their interactions (multimorbidity and these factors) with all-cause mortality among Thai adults.Methods: Associations between multimorbidity (coexistence of two + chronic diseases) and mortality between 2005 and 2019 were investigated among Thai Cohort Study (TCS) participants (n = 87,151). Kaplan-Meier survival curves estimated and compared survival times. Multivariate Cox proportional hazards models examined associations between risk factors, and interactions between multimorbidity, these factors, and survival.Results: 1,958 cohort members died between 2005 and 2019. The risk of death was 43% higher for multimorbid people. In multivariate Cox proportional hazard models, multimorbidity/number of chronic conditions, age, long sleep duration, smoking and drinking were all independent factors that increased mortality risk. Women, urbanizers, university education, over 20,000-baht personal monthly income and soybean products consumption lowered risk. The interactions between multimorbidity and these variables (except for female, urbanizers and soybeans intake) also had significant (p &lt; 0.05) impact on all-cause mortality.Conclusion: The results emphasise the importance of healthy lifestyle and reduced intake of alcohol and tobacco, in reducing premature mortality, especially when suffering from multimorbidity.
Radio Number for Friendship Communication Networks
Authors: Alkasasbeh Ahmad H. , Badr Elsayed , Attiya Hala , Shabana Hanan M. 
Published: October 2023

This paper investigates the radio labeling of friendship networks (F3,k, F4,k, F5,k, and F6,k). In contrast, a mathematical model is proposed for determining the upper bound of radio numbers for (F3,k, F4,k, F5,k, and F6,k). A computational investigation is presented to demonstrate that our results are superior to those of the past. In conclusion, the empirical study demonstrates that the proposed results surpass the previous ones in terms of the upper bound of the radio number and the run-time.
UYGUR HUKUKUNDA ŞUF’A (ÖNALIM) HAKKI –UYGUR HUKUK VESİKALARINA GÖRE–
Authors: KORKMAZ Salih 
Published: October 2023

İslamiyet öncesi Türk hukukuna dair malumat genel olarak Çin kaynakları, İslam kaynakları ve eski Türklerden kalma bazı eserler üzerinden takip edilmektedir. Güney Uygurlarının hukuku hakkında ise bu kaynaklardan farklı olarak çok önemli bazı hukuk vesikaları günümüze ulaşmıştır. Bu vesikalar, Uygur hukukuna dair eşsiz malumat ihtiva etmektedir ve dönemin hukuk anlayışını göstermesi bakımından eşsiz değerdedir. Bunların hangi tarihte yazılmış oldukları tam olarak bilinmemekle birlikte X-XIV. asırlarda kaleme alındıkları tahmin edilmektedir.
Uygur hukuk vesikaları Uygur Türklerinin yerleşik hayata geçtiği, din değiştirdiği ve Çin ile çok yakın münasebetleri bulunduğu bir devirden kalmadır. Yine vesikalardaki belirli noktalarda Çin bazen de Moğol hukukunun tesiri görülmektedir. Bu sebeple Uygur hukuk vesikalarına bakarak ulaşılan neticeleri tüm İslamiyet öncesi Türk hukukuna teşmil etmek hatalı bir yaklaşım olacaktır. Fakat bu durum Uygur hukukunun “eski Türk hukukundan” hiçbir iz taşımadığı manasında yorumlanmamalıdır.
İlk vesikanın bulunmasının üzerinden neredeyse bir buçuk asır geçmesine rağmen, Türkiye’de hukuk tarihçilerince yeterli alakaya mazhar olmamıştır. Bu sebeple de pek çok husus şimdiye kadar açığa çıkarılmamıştır. Bu çalışma, Uygur hukukunda kendine mahsus bir şuf’a (önalım) hakkının varlığını ilk kez ortaya koymaktadır. Ayrıca kimlerin şuf’a hakkına sahip olduğu; bu hakkın nasıl kullanıldığı; hangi akitlerde şuf’anın cereyan ettiği; hangi malların şuf’aya tâbi olduğu gibi pek çok husus da ilk kez bu çalışmada ortaya koyulmuştur.
Niecodzienność. Doświadczenia NGO-sów i inicjatyw obywatelskich pomagających emigrantom z Ukrainy w pierwszym okresie wojny
Authors: Kuczyński Paweł , Latecka Małgorzata , Szczepaniak Irmina 
Published: October 2023

W pierwszych miesiącach wojny w Ukrainie nastąpiła niespotykana mobilizacja społeczna, która osiągnęła globalną skalę. W wielu miejscach świata, często daleko oddalonych od pól bitewnych, obywatele organizowali wszelką możliwą do udzielenia pomoc milionom Ukraińców, którzy byli zmuszeni opuścić swoje domy. W Polsce przyjęto największą liczbę uchodźców. W kraju graniczącym z Ukrainą, z dnia na dzień, zrodził się masowy, oddolny, sieciowy ruch pomocowy, na który składały się trudne do wyliczenia akcje przyjmowania uchodźców w punktach recepcyjnych na granicy, wszelkiego typu zbiórki żywności, ubrań, leków, środków higieny oraz pieniędzy. Także organizowania pomocy medycznej, psychologicznej, zapewnienia zbiorowych miejsc pobytu, przyjmowania rodzin uchodźczych na dłuższy pobyt w domach prywatnych. Badanie, przeprowadzone przez trzyosobowy zespół z [anonim.] objęło pewien wycinek tego ruchu, a mianowicie organizacje pozarządowych i inicjatywy obywatelskie, które zaangażowały się w tę akcję pomocy od pierwszych dni rosyjskiej agresji. Na podstawie wywiadów pogłębionych udało się odtworzyć trzy zazębiające się ze sobą fazy działania pomocowego: przezwyciężanie chaosu, fazę lepszej organizacji i w końcu próby przystosowania się do sytuacji wojny długotrwałej. Teoretyczna warstwa opracowania odwołuje się do kategorii podmiotu lub kwestii moralności jako drivera ruchów społecznych. Jako kluczowe pojęcie dla zrozumienia tego fenomenu zostało opracowane pojęcie organizacji i grup społecznych ruchu społecznego. Całość analizy organizuje temat doświadczenia, ujętego w perspektywie jednostkowej, grupowej i społecznej. Dla wielu obywateli w Polsce, doświadczenie pomocy emigrantom wojennym z Ukrainy miało charakter progowy, który opisujemy w kategoriach „trajektorii biograficznej”, kiedy zmienia się nasza tożsamość.
Relevansi Gugatan Iklim Warga Pulau Pari Ke Pengadilan Swiss Tindakan Faktual Pemerintah
Authors: Javaraziqa Arsya Perdana , Puteri Shintiya Permata 
Published: October 2023

Penelitian ini memiliki tujuan berupa menganalisis gugatan terkait perubahan iklim yang dilakukan warga Pulau Pari ke Pengadilan Swiss. Gugatan yang dilayangkan ke Pengadilan Swiss sebagai bentuk maladministrasi dari tindakan faktual pemerintah berupa pembiaran dengan tidak adanya pembuatan kebijakan. Penelitian ini merupakan suatu penelitian yang menggunakan penelitian hukum empiris (empirical legal research). Pendekatan yang digunakan di dalam ini yaitu dua pendekatan.Pertama berupa pendekatan kasus (case approach) serta kedua pendekatan konseptual (conceptual approach). Sedangkan bahan hukum yang digunakan adalah bahan hukum primer dan juga bahan hukum sekunder. Bahan hukum primer didapat dari peraturan perundang-undangan sedangkan bahan hukum sekunder didapat dari studi kepustakaan dan penganalisisan secara kualitatif. Penelitian ini memiliki hasil bahwa Kebijakan Pemerintah Indonesia dalam menangani perubahan iklim dinilai buruk dibuktikan dengan adanya gugatan yang dilayangkan oleh Masyarakat Pulau Pari. Dalam hal ini kebijakan buruk yang dimaksud ialah berupa tidak adanya kebijakan untuk menuntut perusahaan yang menyangkut persoalan mengenai perubahan iklim. Keadaan tersebut mengakibatkan Pemerintah Indonesia dianggap tidak konsisten dengan komitmennya dalam Perjanjian Paris untuk menurunkan emisi karbon yang terkait dengan perubahan iklim. Penelitian ini juga menemukan bahwa maladministrasi dari tindakan faktual berupa pembiaran dalam kasus perubahan iklim masyarakat Pulau Pari ini telah menyalahi salah satu fungsi pemerintah yaitu fungsi pengaturan. Setelah diterbitkannya Undang-Undang No. 30 Tahun 2014 tentang Administasi Pemerintah (UUAP), tindakan faktual dijadikan sebagai objek sengketa yang dapat diadili di Pengadilan Tata Usaha Negara (PTUN), akan tetapi dalam pelaksanaannya ditemukan banyak sekali hambatan.