bluuebunny/crossref_metadata_2025 huggingface dataset:
Cost-effectiveness analysis for multi adverse events of proton beam therapy for pediatric medulloblastoma in Japan
Authors: Yoshimura Takaaki , Morii Yasuhiro , Tamori Honoka , Kita Ryuki , Hashimoto Takayuki , Aoyama Hidefumi , Ogasawara Katsuhiko
Published: November 2024

Medulloblastomas are one of the most common malignant cancers of the central nervous system in children. Proton beam therapy (PBT) is expected to provide equivalent tumor control to photon therapy while reducing the various adverse events caused by irradiation. Few studies have considered the cost-effectiveness of PBT for pediatric medulloblastoma, considering the multiple adverse effects and reflecting on the latest treatment advancements. A cost-utility analysis of PBT for pediatric medulloblastoma was conducted in a Japanese setting and compared to conventional photon therapy. The analysis was conducted from the public healthcare payer’s perspective, and direct costs for the treatment of radiation therapy and radiation-induced adverse events were included. A Markov model was used, and the health states of secondary cancer, hypothyroidism and hearing loss were defined as adverse events. The time horizon was the lifetime. Incremental cost-effectiveness ratio (ICER) was used as a measurement of cost-effectiveness, with quality-adjusted life years (QALYs) used as an outcome. The costs were estimated from the national fee schedule, and the utility and transition probabilities were estimated from published literature. PBT incurred an additional 1387116 Japanese yen (JPY) and 1.56 QALYs to the comparator. The ICER was JPY 887053/QALY, indicating that PBT was cost-effective, based on the reference value of JPY 5 million/QALY used in the Japanese cost-effectiveness analysis. Deterministic sensitivity analysis showed that the ICER ranged from JPY 284782/QALY to JPY 1918603/QALY as a result of deterministic sensitivity analysis, and probabilistic sensitivity analysis showed that PBT was cost-effective, with a probability of 91.7%.
Characterization of acrylic phantom for use in quality assurance of BNCT beam output procedure
Authors: Matsubayashi Nishiki , Hu Naonori , Takata Takushi , Sasaki Akinori , Kumada Hiroaki , Nakamura Satoshi , Masuda Akihiko , Tanaka Hiroki
Published: November 2024

The accelerator-based boron neutron capture therapy (BNCT) system has been approved for specific cases covered by health insurance, and clinical trials for new cases in Japan are currently being conducted on other systems. Owing to the progress of accelerator-based BNCT, the operation of medical physics must be rendered more efficient. A water phantom is used for the quality assurance (QA) of the BNCT beam output procedure; however, a solid phantom is preferred for routine QA because of its ease of use. Additionally, because water phantoms cannot be readily used in some facilities owing to structural problems, solid phantoms are preferred for unified measurements at different facilities to compare beam outputs. In this study, we perform irradiation tests using an acrylic phantom and verify that an acrylic phantom can be used for QA. The distribution of thermal neutron flux and gamma-ray dose rate inside the acrylic phantom are evaluated through experiments and simulations. The results indicate that the acrylic phantom is suitable for routine QA and for comparing beam outputs among different systems. In the future, the same irradiation tests will be conducted at other facilities.
Operative strategies and outcomes for patients with severe pulmonary artery hypertension and intestinal obstruction: case series from single institution—sharing lessons to improve surgical outcomes
Authors: Ghazali Khairunnisa Che , Mat Ann Dasimakamalia , Yaacob Huzairi , Hamdan Muhammad Urfi Omar , Sidek Ahmad Shanwani Mohamed
Published: November 2024

Pulmonary hypertension is a known perioperative risk factor that carries a high morbidity and mortality rate. Severe pulmonary hypertension is related to high morbidity after general anaesthesia. We are reporting three patients with underlying severe pulmonary hypertension, who presented with intestinal obstruction managed with different perioperative approaches. In case 1, a 38-year-old man with Eisenmenger syndrome and severe pulmonary hypertension underwent exploratory laparotomy, right hemicolectomy, and double barrel stoma for obstructed right-sided colonic tumour. He passed away on Day 6 post-operation. In case 2, a 52-year-old man with Eisenmenger syndrome and severe pulmonary hypertension presented with obstructed rectosigmoid tumour and jejunojejunal intussusception and underwent exploratory laparotomy and Hartmann’s procedure. He succumbed after 33 days of fighting with cardiovascular and respiratory complications. In case 3, a 65-year-old woman, with strangulated paraumbilical hernia, underwent mini laparotomy, small bowel resection, primary anastomosis, and paraumbilical hernia repair under monitored sedation and local anaesthesia. She was discharged home after 7 days of hospitalization.
Utilizing a surgical sabermetrics framework to assess the impact of trainer behavior on trainee cognitive load during vascular surgery simulation
Authors: Norton Joel , Boyle Connor , Kerray Fiona , Tambyraja Andrew , Yule Steven
Published: November 2024

Surgical training programs lack data-driven, objective feedback of resident surgeon technical performance, non-technical skill and intraoperative cognitive load (CogL). Cognitive load is the working memory resource required to perform a task. When capacity is exceeded, cognitive overload occurs, which can negatively affect fine motor and communication skills. Surgical sabermetrics is an emerging field, which focuses on advanced analytics of data derived from audiovisual recordings of operations and non-invasive physiological sensors measuring surgeon CogL. Incivility is prevalent across surgical specialties and has been shown to negatively influence morale, teamwork and performance. Little is known about the impact of CogL on trainee surgeon development, and a gap in knowledge is the impact of intraoperative trainer teaching style and behavior on trainee CogL. Simulation models provide an opportunity to instigate a sabermetrics framework to assess whether trainer behavior objectively impacts trainee CogL and surgical performance, with no risk to patient safety. In this randomized trial, vascular surgery residents will be allocated to one of two groups: supportive trainer or critical trainer. All participants will be tasked with completing a standardized, simulated vascular anastomosis using a femoral artery model, during which they will be exposed to one of these trainer behaviors. A sabermetrics framework will be utilized to collate objective data about participant technical performance, non-technical skills and CogL. Full ethical approval has been obtained for this study. Dissemination of the results will be through conferences and publications in peer reviewed journals.
Investigating biological nitrogen fixation via single-cell transcriptomics
Authors: Pereira Wendell J , Conde Daniel , Perron Noé , Schmidt Henry W , Dervinis Christopher , Venado Rafael E , Ané Jean-Michel , Kirst Matias
Published: November 2024

The extensive use of nitrogen fertilizers has detrimental environmental consequences, and it is essential for society to explore sustainable alternatives. One promising avenue is engineering root nodule symbiosis, a naturally occurring process in certain plant species within the nitrogen-fixing clade, into non-leguminous crops. Advancements in single-cell transcriptomics provide unprecedented opportunities to dissect the molecular mechanisms underlying root nodule symbiosis at the cellular level. This review summarizes key findings from single-cell studies in Medicago truncatula, Lotus japonicus, and Glycine max. We highlight how these studies address fundamental questions about the development of root nodule symbiosis, including the following findings: (i) single-cell transcriptomics has revealed a conserved transcriptional program in root hair and cortical cells during rhizobial infection, suggesting a common infection pathway across legume species; (ii) characterization of determinate and indeterminate nodules using single-cell technologies supports the compartmentalization of nitrogen fixation, assimilation, and transport into distinct cell populations; (iii) single-cell transcriptomics data have enabled the identification of novel root nodule symbiosis genes and provided new approaches for prioritizing candidate genes for functional characterization; and (iv) trajectory inference and RNA velocity analyses of single-cell transcriptomics data have allowed the reconstruction of cellular lineages and dynamic transcriptional states during root nodule symbiosis.
Parent comets of IAU MDC meteoroid streams unaltered by dynamical evolution
Authors: Ďurišová S , Neslušan L , Hajduková M , Rudawska R , Jopek T J
Published: November 2024

Meteoroids that are members of a meteoroid stream move around the Sun in the mutually similar orbits, and their mean orbit is also similar to the orbit of the parent body, at least in the first stage of their dynamical evolution. This similarity enables the identification of the parent body of the stream. We evaluated the similarity of the meteoroid streams’ mean orbits from the IAU Meteor Data Center data base and all-known orbits of comets in course to find further, not-yet-known associations between meteor showers and their parent comets. We found 81 new associations and confirmed 84 associations that were discovered by other authors in the past.
The relation between the ADF and the ionized nebular mass in PNe
Authors: Peña Miriam , Ruiz-Escobedo Francisco , Juárez Torres Brenda N
Published: November 2024

In this work, we analyse the proposed relation between abundance discrepancy factors (ADFs) and ionized masses in planetary nebulae (PNe). For this, we have collected from the literature the ADFs and other parameters such as heliocentric distances, H $\beta$ luminosities, logarithmic reddening correction at H $\beta$, c(H $\beta$), electron densities, and others and we calculated the ionized mass for a sample of 132 PNe, 27 of which possess a binary central star (14 are close binaries). In addition, the distribution of these objects in our Galaxy is analysed. The ionized masses were calculated considering two different electron densities, the one provided by the [S ii] density sensitive lines ratio and the one provided by the [Cl iii] lines ratio. No relation was found between ionized masses and ADFs for this sample, although it is confirmed than the PNe with the largest ADFs correspond in general to objects with a close binary central star, although it is important to say that about 20 per cent of these objects have an ADF larger than 5 but smaller than 10. Therefore, a PN having a close binary central star does not necessarily exhibit an extremely large ADF. We also have searched for possible relations between the ADFs and the stellar atmospheres, divided in H-rich and H-poor stars. No particular relation was found. Interestingly, several PNe with a [WR] H-poor CSPN present an ADF larger than 10, but so far they have not been reported as having a binary central star.
NGTS-33b: a young super-Jupiter hosted by a fast-rotating massive hot star
Authors: Alves Douglas R , Jenkins James S , Vines Jose I , Battley Matthew P , Lendl Monika , Bouchy François , Nielsen Louise D , Gill Samuel , Moyano Maximiliano , Anderson D R , Burleigh Matthew R , Casewell Sarah L , Goad Michael R , Hawthorn Faith , Kendall Alicia , McCormac James , Osborn Ares , Smith Alexis M S , Udry Stéphane , Wheatley Peter J , Saha Suman , Parc Léna , Nigioni Arianna , Apergis Ioannis , Ramsay Gavin
Published: November 2024

In the last few decades, planet search surveys have been focusing on solar-type stars, and only recently the high-mass regimes. This is mostly due to challenges arising from the lack of instrumental precision, and more importantly, the inherent active nature of fast-rotating massive stars. Here, we report NGTS-33b (TOI-6442b), a super-Jupiter planet with mass, radius, and orbital period of 3.6 $\pm$ 0.3 M$_{\rm J}$, 1.64 $\pm$ 0.07 R$_{\rm J}$, and $2.827\,972 \pm 0.000\,001$ d, respectively. The host is a fast-rotating ($0.6654 \pm 0.0006$ d) and hot (T$_{\rm eff}$ = 7437 $\pm$ 72 K) A9V type star, with a mass and radius of 1.60 $\pm$ 0.11 M$_{\odot }$ and 1.47 $\pm$ 0.06 R$_{\odot }$, respectively. Planet structure and gyrochronology models show that NGTS-33 is also very young with age limits of 10–50 Myr. In addition, membership analysis points towards the star being part of the Vela OB2 association, which has an age of $\sim$ 20–35 Myr, thus providing further evidence about the young nature of NGTS-33. Its low bulk density of 0.19$\pm$0.03 g cm$^{-3}$ is 13 per cent smaller than expected when compared to transiting hot Jupiters (HJs) with similar masses. Such cannot be solely explained by its age, where an up to 15 per cent inflated atmosphere is expected from planet structure models. Finally, we found that its emission spectroscopy metric is similar to JWST community targets, making the planet an interesting target for atmospheric follow-up. Therefore, NGTS-33b’s discovery will not only add to the scarce population of young, massive and HJs, but will also help place further strong constraints on current formation and evolution models for such planetary systems.
The impact of baryons on the internal structure of dark matter haloes from dwarf galaxies to superclusters in the redshift range 0 < z < 7
Authors: Sorini Daniele , Bose Sownak , Pakmor Rüdiger , Hernquist Lars , Springel Volker , Hadzhiyska Boryana , Hernández-Aguayo César , Kannan Rahul
Published: November 2024

We investigate the redshift evolution of the concentration–mass relationship of dark matter haloes in state-of-the-art cosmological hydrodynamic simulations and their dark-matter-only (DMO) counterparts. By combining the IllustrisTNG suite and the novel MillenniumTNG simulation, our analysis encompasses a wide range of box size ($50{-}740 \: \rm cMpc$) and mass resolution ($8.5 \times 10^4 {-} 3.1 \times 10^7 \: \rm {\rm M}_{\odot }$ per baryonic mass element). This enables us to study the impact of baryons on the concentration–mass relationship in the redshift interval $0\lt z\lt 7$ over an unprecedented halo mass range, extending from dwarf galaxies to superclusters ($\sim 10^{9.5}{-}10^{15.5} \, \rm {\rm M}_{\odot }$). We find that the presence of baryons increases the steepness of the concentration–mass relationship at higher redshift, and demonstrate that this is driven by adiabatic contraction of the profile, due to gas accretion at early times, which promotes star formation in the inner regions of haloes. At lower redshift, when the effects of feedback start to become important, baryons decrease the concentration of haloes below the mass scale $\sim 10^{11.5} \, \rm {\rm M}_{\odot }$. Through a rigorous information criterion test, we show that broken power-law models accurately represent the redshift evolution of the concentration–mass relationship, and of the relative difference in the total mass of haloes induced by the presence of baryons. We provide the best-fitting parameters of our empirical formulae, enabling their application to models that mimic baryonic effects in DMO simulations over six decades in halo mass in the redshift range $0\lt z\lt 7$.
Effectiveness and safety of low-energy shock wave therapy for digital ulcers associated with systemic sclerosis: A Phase 3 pivotal clinical trial
Authors: Ishii Tomonori , Kawaguchi Yasushi , Ishikawa Osamu , Takemori Hiromitsu , Takasawa Naruhiko , Kobayashi Hitoshi , Takahashi Yuichi , Yasuoka Hidekata , Kodera Takao , Takai Osamu , Nakaya Izaya , Sato Yukio , Izumiyama Tomomasa , Fujii Hiroshi , Kamogawa Yukiko , Shirota Yuko , Shirai Tsuyoshi , Fujita Yoko , Saito Shinichiro , Chiu Shih-Wei , Yamaguchi Takuhiro , Shimokawa Hiroaki , Harigae Hideo
Published: November 2024

Objectives

Systemic sclerosis (SSc) is characterised by ischaemic skin ulcers on the fingertips, and low-energy shock wave therapy is suggested as a novel treatment for ischaemic lesions with angiogenic effects. We aimed to investigate the efficacy and safety of shock wave therapy for skin ulcers in patients with SSc.

Methods

In this Phase 3 pivotal study, we analysed 60 SSc patients with digital ulcers that did not disappear after >4 weeks of existing treatment: 30 patients were treated with extracorporeal shock wave therapy and 30 with conventional treatment. The ulcer count reduction observed after an 8-week treatment period was compared between the shock wave therapy and conventional treatment groups.

Results

After an 8-week treatment period, the mean reduction in the number of ulcers was 0.83 (SD 2.79) in the conventional treatment group compared to a more pronounced reduction of 4.47 (SD 2.65) in the shock wave therapy group.

Conclusions

The study findings indicate the efficacy of extracorporeal shock wave therapy for refractory digital ulcers associated with SSc, which has limited therapeutic options. This therapy is non-invasive and safe and can be used without restriction in combination with other therapies, thus serving as a novel therapeutic method.
sc2GWAS: a comprehensive platform linking single cell and GWAS traits of human
Authors: Yin Mingxue , Feng Chenchen , Yu Zhengmin , Zhang Yuexin , Li Ye , Wang Xuan , Song Chao , Guo Maozu , Li Chunquan
Published: November 2024

Identifying cell populations associated with risk variants is essential for uncovering cell-specific mechanisms that drive disease development and progression. Integrating genome-wide association studies (GWAS) with single-cell RNA sequencing (scRNA-seq) has become an effective strategy for detecting trait–cell relationships. The accumulation of trait-related single cell data has led to an urgent need for its comprehensively processing. To address this, we developed sc2GWAS (https://bio.liclab.net/sc2GWAS/), which aims to document large-scale GWAS trait–cell regulatory pairs at single-cell resolution and provide comprehensive annotations and enrichment analyses for these related pairs. The current version of sc2GWAS curates a total of 15 078 310 candidate trait–cell pairs from > 6 300 000 individual cells, offering a valuable resource for exploring complex regulatory relationships between traits and cells. We applied strict quality control measures on both scRNA-seq data and GWAS data, ensuring the reliability and accuracy of the datasets for the identification of trait-relevant cells and genes. In addition, sc2GWAS provides ranked lists of trait-relevant genes and extensive (epi) genetic annotations, making it a valuable resource for downstream analyses. We demonstrate the utility of the platform by investigating Alzheimer’s disease, where we identified significant associations between the disease and microglial cells, with the APOE gene emerging as particularly significant. This platform facilitates detailed research into complex trait–cell and trait–gene interactions, we anticipate that sc2GWAS will become a comprehensive and valuable platform for exploring GWAS trait–cell regulatory mechanisms.
A systematic quantitative approach comprehensively defines domain-specific functional pathways linked to Schizosaccharomyces pombe heterochromatin regulation
Authors: Muhammad Abubakar , Sarkadi Zsuzsa , Mazumder Agnisrota , Ait Saada Anissia , van Emden Thomas , Capella Matias , Fekete Gergely , Suma Sreechakram Vishnu N , Al-Sady Bassem , Lambert Sarah A E , Papp Balázs , Barrales Ramón Ramos , Braun Sigurd
Published: November 2024

Heterochromatin plays a critical role in regulating gene expression and maintaining genome integrity. While structural and enzymatic components have been linked to heterochromatin establishment, a comprehensive view of the underlying pathways at diverse heterochromatin domains remains elusive. Here, we developed a systematic approach to identify factors involved in heterochromatin silencing at pericentromeres, subtelomeres and the silent mating type locus in Schizosaccharomyces pombe. Using quantitative measures, iterative genetic screening and domain-specific heterochromatin reporters, we identified 369 mutants with different degrees of reduced or enhanced silencing. As expected, mutations in the core heterochromatin machinery globally decreased silencing. However, most other mutants exhibited distinct qualitative and quantitative profiles that indicate heterochromatin domain-specific functions, as seen for example for metabolic pathways affecting primarily subtelomere silencing. Moreover, similar phenotypic profiles revealed shared functions for subunits within complexes. We further discovered that the uncharacterized protein Dhm2 plays a crucial role in heterochromatin maintenance, affecting the inheritance of H3K9 methylation and the clonal propagation of the repressed state. Additionally, Dhm2 loss resulted in delayed S-phase progression and replication stress. Collectively, our systematic approach unveiled a landscape of domain-specific heterochromatin regulators controlling distinct states and identified Dhm2 as a previously unknown factor linked to heterochromatin inheritance and replication fidelity.
Glucose binds and activates NSUN2 to promote translation and epidermal differentiation
Authors: Miao Weili , Porter Douglas F , Li Ya , Meservey Lindsey M , Yang Yen-Yu , Ma Chengjie , Ferguson Ian D , Tien Vivian B , Jack Timothy M , Ducoli Luca , Lopez-Pajares Vanessa , Tao Shiying , Savage Paul B , Wang Yinsheng , Khavari Paul A
Published: November 2024

Elevations in intracellular glucose concentrations are essential for epithelial cell differentiation by mechanisms that are not fully understood. Glucose has recently been found to directly bind several proteins to alter their functions to enhance differentiation. Among the newly identified glucose-binding proteins is NSUN2, an RNA-binding protein that we identified as indispensable for epidermal differentiation. Glucose was found to bind conserved sequences within NSUN2, enhancing its binding to S-adenosyl-L-methionine and boosting its enzymatic activity. Additionally, glucose enhanced NSUN2’s proximity to proteins involved in mRNA translation, with NSUN2 modulating global messenger RNA (mRNA) translation, particularly that of key pro-differentiation mRNAs containing m5C modifications, such as GRHL3. Glucose thus engages diverse molecular mechanisms beyond its energetic roles to facilitate cellular differentiation processes.
PGxDB: an interactive web-platform for pharmacogenomics research
Authors: Duong Nguyen Trinh Trung , Tanoli Ziaurrehman , Hassan Saad , Özcan Umut Onur , Caroli Jimmy , Kooistra Albert J , Gloriam David E , Hauser Alexander S
Published: November 2024

Pharmacogenomics, the study of how an individual's genetic makeup influences their response to medications, is a rapidly evolving field with significant implications for personalized medicine. As researchers and healthcare professionals face challenges in exploring the intricate relationships between genetic profiles and therapeutic outcomes, the demand for effective and user-friendly tools to access and analyze genetic data related to drug responses continues to grow. To address these challenges, we have developed PGxDB, an interactive, web-based platform specifically designed for comprehensive pharmacogenomics research. PGxDB enables the analysis across a wide range of genetic and drug response data types - informing cell-based validations and translational treatment strategies. We developed a pipeline that uniquely combines the relationship between medications indexed with Anatomical Therapeutic Chemical (ATC) codes with molecular target profiles with their genetic variability and predicted variant effects. This enables scientists from diverse backgrounds - including molecular scientists and clinicians - to link genetic variability to curated drug response variability and investigate indication or treatment associations in a single resource. With PGxDB, we aim to catalyze innovations in pharmacogenomics research, empower drug discovery, support clinical decision-making, and pave the way for more effective treatment regimens. PGxDB is a freely accessible database available at https://pgx-db.org/
Protein moonlighting by a target gene dominates phenotypic divergence of the Sef1 transcriptional regulatory network in yeasts
Authors: Hsu Po-Chen , Lu Tzu-Chiao , Hung Po-Hsiang , Leu Jun-Yi
Published: November 2024

Transcriptional rewiring generates phenotypic novelty, acting as an important mechanism contributing to evolutionary development, speciation, and adaptation in all organisms. The phenotypic outcomes (functions) of transcription factor (TF) activity are determined by the combined effects of all target genes in the TF’s regulatory network. Plastic rewiring of target genes accumulates during species divergence and ultimately alters phenotypes, indicating a TF functional switch. We define this phenomenon as ‘disruptive rewiring’, where the rewiring process disrupts the link between a TF and its original target genes that determine phenotypes. Here, we investigate if ‘complete’ disruptive rewiring is a prerequisite for a TF functional switch by employing chromatin immunoprecipitation sequencing, RNA expression, and phenotypic assays across yeast species. In yeasts where Sef1 targets TCA (tricarboxylic acid) cycle genes, we demonstrate that Sef1 orthologs can promote and inhibit respiratory growth by modulating the moonlighting function of their conserved target, NDE1. This modulation occurs without changing the overall association of Sef1 with TCA cycle genes. We propose that phenotypic masking by NDE1 promotes ‘deceptive’ disruptive rewiring of the Sef1 regulatory network in Saccharomyces cerevisiae, thereby potentially constraining future evolutionary trajectories.
Molecular modification enables CO2 electroreduction to methane on platinum surface in acidic media
Authors: Yang Hengpan , Cai Huizhu , Li Deliang , Kong Yan , Feng Shangzhao , Jiang Xingxing , Hu Qi , He Chuanxin
Published: November 2024

Cu-based materials can produce hydrocarbons in CO2 electroreduction (CO2RR), but their stability still needs to be enhanced particularly in acidic media. Metallic Pt is highly stable in both acidic and alkaline media, yet rarely utilized in CO2RR, due to the competitive activity in hydrogen evolution reaction (HER). In this research, abundant thionine (Th) molecules are stably confined within Pt nanocrystals via a molecular doping strategy. The Pt surface is successfully modulated by these Th molecules, and thereby the dominant HER activity is converted to CO2RR activity. CO2 could be electroreduced to CH4 using organic molecule-modified Pt-based catalysts for the first time. Specifically, this composite catalyst maintains more than 100-hour stability in strong acid conditions (pH 1), even comparable to those state-of-the-art CO2RR catalysts. In-situ spectroscopic analysis and theoretical calculations reveal that the molecular modification can decrease the energy barrier for *COOH formation, and guarantee the sufficient local *H near Pt surface. Additionally, the *H derived from H2O dissociation is favorable for the *CO hydrogenation pathway towards *CHO, eventually leading to the formation of CH4. This strategy might be easily applied to microenvironment and interface regulation in other electrocatalytic reactions.
First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin
Authors: Aladia Alwa Hussien , Hamdan Samar , Alkheder Ahmad
Published: November 2024

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder that affects cholesterol synthesis and causes various physical and mental abnormalities. The case is a 25-day-old male infant who presented with multiple congenital anomalies, such as microcephaly, facial dysmorphism, syndactyly, hypospadias, and other organ malformations. He also had severe vomiting, feeding difficulty, irritability, dehydration, and hyponatremia. Laboratory tests showed low serum cholesterol, in addition to genetic tests, confirming the diagnosis of SLOS. The infant was treated with simvastatin, which improved his irritability and was well tolerated. The paper discusses the clinical features, diagnosis, and management of SLOS, and highlights the importance of early recognition and intervention for this rare case. It is also considered the first documented case in Syria.
Rubella myopericarditis and cardiac tamponade: a case report
Authors: Ishibashi Yohei , Nojiri Yoshito , Takahashi Yosuke , Takahashi Shinya , Fukuda Nobuaki , Hiroi Shitoshi
Published: November 2024

A 20-year-old male patient with ulcerative proctitis presented with a fever and chest pain. He was diagnosed with rubella-associated myopericarditis due to pericardial rub, elevated troponin I, ST elevation, and positive rubella-immunoglobulin M. The patient subsequently developed cardiac tamponade but responded well to pericardial drainage and antiinflammatory therapy. Notably, he lacked the classic rubella rash and lymphadenopathy. This case highlights the rare but potential complication of rubella-induced myopericarditis with tamponade, and the importance of considering this diagnosis in the absence of typical rubella symptoms.
Patent ductus arteriosus with pulmonary endarteritis leading to pulmonary infarction in a 9-year-old boy: a case report
Authors: Shakya Amshu , Shakya Urmila , Shah Subash Chandra , Bhandari KC Vidhata , Khadka Devaki , Ghulu Urusha
Published: November 2024

Background: Pulmonary endarteritis secondary to Patent ductus arteriosus (PDA) can present even in silent PDAs. Pulmonary endarteritis is treated with prolonged duration of antibiotics followed by PDA closure. It can also cause septic pulmonary emboli requiring critical care if multi-organ dysfunction ensues. Case presentation: A 9-year-old boy had high grade fever for one week and few nonspecific complaints. Echocardiogram showed PDA with infective endarteritis. Child was admitted with IV antibiotics. CECT chest done for resurgence of fever and need for increased oxygen demand showed multiple septic pulmonary emboli with pulmonary infarction. Surgical closure of PDA prevented further clinical deterioration. Conclusion: This case highlights the poor medical scenario of rural communities of Nepal. Such life- threatening complication can be prevented by timely recognition of the condition which is only possible by implementation of standard, accessible and affordable health care system across the country.
A rare case of Behçet’s disease complicated by Budd-Chiari syndrome and perforated duodenal ulcers in a young male
Authors: Hroub Osama , Ibraheem Kareem , Herbawi Abdalrahman N , Hroub Mohammad , Smerat Mohammad I , Batran Ahmad
Published: November 2024

Behçet’s disease (BD) is characterized by skin lesions, uveitis, and recurrent oral and genital ulcers. Vascular problems, predominantly affecting veins, lead to thrombosis, increasing the risk of ruptured artery aneurysms and Budd-Chiari syndrome (BCS). Morbidity and mortality are significantly heightened by rare occurrences such as pulmonary artery aneurysms, cardiac involvement, and BCS. Prompt diagnosis and treatment are pivotal for prognosis improvement, particularly in males with early onset. We present a case of a 16-year-old male with BD history, who developed abdominal distension, pedal edema, and shortness of breath. Clinical examination and laboratory findings revealed thrombosis in the right popliteal vein and BCS. Despite the initiation of lifelong anticoagulation therapy, the patient later suffered a gastrointestinal bleed from perforated duodenal ulcers, necessitating emergency intervention. Given a high Model for End-Stage Liver Disease (MELD) score and associated mortality risk, the patient was promptly referred for liver transplantation.
Rupioid psoriasis, a unique presentation treated with Ustekinumab
Authors: Diab Sdrah , Al-janabi Moatasem Hussein , Diab Ibrahim , Hassan Fouz
Published: November 2024

Rupioid psoriasis is a rare subtype of psoriasis characterized by distinctive lesions resembling oyster shells, known as rupioid lesions. This subtype is particularly uncommon in the pediatric population and is often associated with poor treatment compliance. Ustekinumab, an IgG monoclonal antibody, targets IL-12 and IL-23, reducing the release of proinflammatory cytokines TNFα, IL-2, and IL-17α, which play vital roles in psoriasis pathophysiology. Approved for pediatric patients aged six years and older, ustekinumab provides a therapeutic option for moderate to severe psoriasis. We present the case of a 10-year-old girl diagnosed with psoriasis vulgaris at age two. She presented with rupioid lesions following a urinary tract infection that had been treated with oral cefixime (200 mg). After conducting appropriate tests, ustekinumab (45 mg subcutaneously) was administered, leading to significant improvements in the thickness of the lesions and overall appearance. This case demonstrates ustekinumab’s efficacy in treating this challenging form of psoriasis.
Proinflammatory diet is associated with higher pain, disease severity and biochemical parameters associated with inflammation in fibromyalgia
Authors: Ersoy Söke Nursena , İnceöz Hansa , Solmaz İlker , Yardımcı Hülya
Published: November 2024

Objective

Fibromyalgia, which is becoming increasingly common today, affects the quality of life of those affected. The aim of this study was to investigate the relationship between diet and pain, disease severity, and biochemical parameters in fibromyalgia.

Design

Cross-sectional design using validated questionnaires.

Setting

Fibroyalgia patients with Traditional and Complementary Medicine clinics.

Subject

In total, 84 patients with fibromyalgia (FM), which was diagnosed by a rheumatologist.

Methods

The cross-sectional study was conducted with 84 fibromyalgia patients in Turkey. The Dietary Inflammatory Index (DII) was calculated by a 24-hour diet recall. Self-reported pain levels and disease severity were evaluated by the Visual Analog Scale (VAS) and a Revised Fibromyalgia Impact Questionnaire (FIQR), respectively. Antropometric measures and biochemical parameters associated with inflammation were also evaluated.

Results

Linear regression analysis revealed that the VAS pain score [β (95% confidence interval [CI])=1.72 (0.90–2.55), P < .001], FIQ-R [β (95% CI)=5.62 (0.14–11.09), P < .001] and uric acid/creatinine ratio [β (95% CI)=0.21 (−0.10 to 0.52), P < .001] were positively associated with the DII after adjustments for body mass index (BMI), body fat, fat free mass, cholesterol, fiber, caroten, iron, magnesium, vitamine C reported by the patients with FM.

Conclusions

A pro-inflammatory diet was associated with higher pain, disease severity and uric acid/creatinine ratio in patients with FM.
Sociogeographic determinants of rapid opioid reduction or discontinuation among patients on high-dose long-term opioid therapy in North Carolina, 2006–2018
Authors: Alam Ishrat Z , DiPrete Bethany L , Pence Brian W , Planey Arrianna Marie , Marshall Stephen W , Fulcher Naoko , Ranapurwala Shabbar I
Published: November 2024

Objective

Rapid opioid reduction or discontinuation among patients on high-dose long-term opioid therapy (HD-LTOT) is associated with increased risk of heroin use, overdose, opioid use disorder, and mental health crises. We examined the association of residential segregation and health care access with rapid opioid reduction or discontinuation among patients on HD-LTOT and examined effect measure modification of individual-level characteristics.

Methods

Using 2006–2018 North Carolina private insurance claims data, we conducted a retrospective cohort study of patients who were 18–64 years of age and on HD-LTOT (≥90 morphine milligram equivalents for 81 of 90 consecutive days), with 1-year follow-up. The outcome was rapid opioid reduction or discontinuation (versus maintenance, increase, or gradual reduction/discontinuation). Individual-level characteristics included age, sex, and clinical diagnoses (post-traumatic stress disorder [PTSD], depression, anxiety, and substance use disorder). Neighborhood-level characteristics included health care access (measured as geographic distance to health care facilities) and residential segregation (operationalized with the Index of Concentration at the Extremes). We conducted bivariate linear regression to estimate 1-year risk differences and 95% confidence intervals.

Results

Of 13 375 patients on HD-LTOT, 48.6% experienced rapid opioid reduction or discontinuation during 1-year follow-up. Female patients and those diagnosed with PTSD who lived in areas of least racial and economic privilege had higher risks of rapid opioid reduction or discontinuation than did those living in areas with the most racial and economic privilege.

Conclusion

Health care providers need to address potential biases toward patients living in underserved and marginalized communities, as well as intersectionality with mental health stigma, by prioritizing training and education in delivering unbiased care during opioid tapering.
Identifying factors associated with persistent opioid use after total joint arthroplasty: a retrospective review
Authors: Quaye Aurora , DiPalazzo John , Kostka Kristin , Richard Janelle M , Beers-Mulroy Blaire , Peck Meredith , Krulee Robert , Zhang Yi
Published: November 2024

Objective

To identify predictors of persistent opioid use in opioid-naïve individuals undergoing total joint arthroplasty.

Design

Retrospective cohort study.

Setting

Maine Health System.

Subjects

Opioid-naïve patients who underwent at least one total joint arthroplasty (knee, hip, or shoulder) between 2015 and 2020.

Methods

Least Absolute Shrinkage and Selection Operator (LASSO) logistic regression was used to create a predictive model for persistent opioid use after surgery from a US Electronic Health Record dataset in the Observational Medical Outcomes Partnership Common Data Model format. 75% of the data was used to build the LASSO model using 10-fold cross-validation and 25% of the data was used to determine the optimal probability threshold for predicting the binary outcome.

Results

Out of 6432 patients, 12.3% (792) were identified as having persistent opioid use across combined total joint arthroplasties defined as at least one opioid prescription between 90 days and 1 year after surgery. Patients with persistent opioid use were more likely to be current smokers (OR 1.65), use antidepressants (OR 1.76), or have a diagnosis of post-traumatic stress disorder (OR 2.07) or a substance-related disorder (OR 1.69). Other factors associated with persistent opioid use included back pain (OR 1.43), dementia (OR 1.65), and body mass index over 40 (OR 2.50). The probability of persistent opioid use was not associated with age, sex, or ethnicity.

Conclusions

This predictive model for persistent opioid use after total joint arthroplasty shows promise as an evidence-based, validated, and standardized tool for identifying high-risk patients before surgery in order to target strategies and interventions to reduce the reliance on opioids for postoperative pain control.
Structure of the aminoterminal domain of the birnaviral multifunctional VP3 protein and its unexplored critical role
Authors: Ferrero Diego Sebastian , Gimenez María Cecilia , Sagar Amin , Rodríguez Javier María , Castón José R , Terebiznik Mauricio R , Bernadó Pau , Verdaguer Nuria
Published: November 2024

To overcome their limited genetic capacity, numerous viruses encode multifunctional proteins. The birnavirus VP3 protein plays key roles during infection, including scaffolding of the viral capsid during morphogenesis, recruitment, and regulation of the viral RNA polymerase, shielding of the double-stranded RNA genome and targeting of host endosomes for genome replication, and immune evasion. The dimeric form of VP3 is critical for these functions. In previous work, we determined the X-ray structure of the central domains (D2–D3) of VP3 from the infectious bursal disease virus (IBDV). However, the structure and function of the IBDV VP3 N-terminal domain (D1) could not be determined at that time. Using integrated structural biology approaches and functional cell assays, here we characterize the IBDV VP3 D1 domain, unveiling its unexplored roles in virion stability and infection. The X-ray structure of D1 shows that this domain folds in four α-helices arranged in parallel dimers, which are essential for maintaining the dimeric arrangement of the full-length protein. Combining small-angle X-ray scattering analyses with molecular dynamics simulations allowed us to build a structural model for the D1–D3 domains. This model consists of an elongated structure with high flexibility in the D2–D3 connection, keeping D1 as the only driver of VP3 dimerization. Using reverse genetics tools, we show that the obliteration of D1 domain prevents the VP3 scaffold function during capsid assembly and severely impacts IBDV infection. Altogether, our study elucidates the structure of the VP3 D1 domain and reveals its role in VP3 protein dimerization and IBDV infection.
Identifying brain targets for real-time fMRI neurofeedback in chronic pain: insights from functional neurosurgery
Authors: Liu Dan , Mi Yiqi , Li Menghan , Nigri Anna , Grisoli Marina , Kendrick Keith M , Becker Benjamin , Ferraro Stefania
Published: November 2024

Background

The lack of clearly defined neuromodulation targets has contributed to the inconsistent results of real-time fMRI-based neurofeedback (rt-fMRI-NF) for the treatment of chronic pain. Functional neurosurgery (funcSurg) approaches have shown more consistent effects in reducing pain in patients with severe chronic pain.

Objective

This study aims to redefine rt-fMRI-NF targets for chronic pain management informed by funcSurg studies.

Methods

Based on independent systematic reviews, we identified the neuromodulation targets of the rt-fMRI-NF (in acute and chronic pain) and funcSurg (in chronic pain) studies. We then characterized the underlying functional networks using a subsample of the 7 T resting-state fMRI dataset from the Human Connectome Project. Principal component analyses (PCA) were used to identify dominant patterns (accounting for a cumulative explained variance >80%) within the obtained functional maps, and the overlap between these PCA maps and canonical intrinsic brain networks (default, salience, and sensorimotor) was calculated using a null map approach.

Results

The anatomical targets used in rt-fMRI-NF and funcSurg approaches are largely distinct, with the middle cingulate cortex as a common target. Within the investigated canonical rs-fMRI networks, these approaches exhibit both divergent and overlapping functional connectivity patterns. Specifically, rt-fMRI-NF approaches primarily target the default mode network (P value range 0.001–0.002) and the salience network (P = 0.002), whereas funcSurg approaches predominantly target the salience network (P = 0.001) and the sensorimotor network (P value range 0.001–0.023).

Conclusion

Key hubs of the salience and sensorimotor networks may represent promising targets for the therapeutic application of rt-fMRI-NF in chronic pain.
Comparison between Anterior Approach and Posterior Approach of Suprascapular Nerve Block for Postoperative Analgesia in Shoulder Arthroscopy
Authors: Ahmed Doaa Ramadan , ElZahaby Hany Mohamed , Hazem Ashraf mahmoud , Hassan Ramy Mohammed
Published: November 2024

Background

Severe intraoperative and postoperative pain associated with arthroscopic shoulder surgery has high incidence reaching up to 45%, it is often significant enough to interfere with initial recovery and rehabilitation. This pain is difficult to manage without large-dose opioids.

Aim of the Work

compare between anterior approach and posterior approach of suprascapular nerve block for postoperative analgesia in shoulder arthroscopy.

Patients and Methods

The study was conducted in Ain Shams University Eldemerdash Hospitals after approval from the ethics committee of anesthesia, intensive care and pain management department and written patients‟ consent. It included a total of 72 adult patients aged 18-60 years, Scheduled for shoulder arthroscopic surgeries. Patients were randomly divided into two equal groups, 36 each, according to the inclusion and exclusion criteria.

Results

no statistically significant differences in pain scores at 6, 12, and 24 hours postoperatively between the anterior SSNB and posterior SSNB groups. Postoperative First analgesia request time/hour early in posterior approach comparing to anterior approach (6.03±0.74, 5.64±0.68).opioid requirements were statistically different between the two groups, with a benefit in favour of the anterior route in the recovery area and during the first 24 postoperative hours.

Conclusion

the main finding is the anterior approach of SSNB provided superior analgesia compared with posterior approach of SSNB in postoperative opioid consumption.
Comparison between Preoperative Ultrasound Guided TAP Block and Caudal Block in Inguinal Hernia Repair in Paediatrics for Intraoperative and Postoperative Analgesia
Authors: Ahmed Hebatalla Maged Badrawy , Nabil el-shafeey Mohammed , Mohammed Abdelal Wael Ahmed , Elshaer Anesthesia Eman Mohamed
Published: November 2024

Background

Inguinal hernia repair is the most common scheduled sub-umbilical surgery done in day case paediatric surgical units. Using optimal analgesic regimens is essential to provide safe and effective analgesia, reduce postoperative stress response and accelerate recovery from surgery. Regional anaesthetic techniques are commonly used to facilitate pain control in paediatric surgical procedures.

Aim of the Work

To compare the effectiveness and safety of US guided TAP versus caudal block for postoperative analgesia in paediatric patients undergoing Unilateral Inguinal hernia repair.

Patients and Methods

The study was conducted on 40 randomly chosen patients in Ain Shams University Hospitals after approval of the medical ethical committee. Patients were divided randomly into two groups, each group consisted of 20 patients. After preoperative assessment and obtaining baseline vital data, all patients received general anaesthesia followed by the block at the beginning of the operation.

Results

the study revealed that US guided TAP block provided significantly prolonged postoperative analgesia and reduced the postoperative analgesic requirements as compared with caudal block in paediatric patients and also demonstrated that both analgesic techniques are safe.

Conclusion

From our study we can conclude that Ultrasound-guided transversus abdominis plane block and caudal epidural block are effective analgesics in children undergoing inguinal hernia repair surgery, with transversus plane block providing longer analgesic effect and decreased pain scores.