bluuebunny/crossref_metadata_2025_split huggingface dataset:
Joubert syndrome with bilateral peroneal neuropathies: A case report
Authors: Kim Hyeong-Min , Jo Hyun-Seok , Han Jae-Young , Choi In-Sung , Song Min-Keun , Park Hyeng-Kyu 
Published: November 2023

Abstract
Background
Joubert syndrome is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering the etiology of Joubert syndrome, peripheral nervous system abnormalities cannot be excluded; however, cases of Joubert syndrome accompanied by peripheral nervous system abnormalities have not yet been reported. Distinct radiological findings on brain magnetic resonance imaging were considered essential for the diagnosis of Joubert syndrome. However, recently, cases of Joubert syndrome with normal or nearly normal brain morphology have been reported. To date, there is no consensus on the most appropriate diagnostic method for Joubert syndrome when imaging-based diagnostic approach is challenging. This report describes the case of an adult patient who exhibited bilateral peroneal neuropathies and was finally diagnosed with Joubert syndrome through genetic testing.
Case presentation:
A 27-year-old man visited our outpatient clinic due to a gait disturbance that started at a very young age. The patient exhibited difficulty maintaining balance, especially when walking slowly. Oculomotor apraxia was observed on ophthalmic evaluation. During diagnostic workups, including brain imaging and direct DNA sequencing, no conclusive findings were detected. Only nerve conduction studies revealed profound bilateral peroneal neuropathies. We performed whole genome sequencing to obtain a proper diagnosis and identify the gene mutation responsible for Joubert syndrome.
Conclusions
This case represents the first instance of peripheral nerve dysfunction in Joubert syndrome. Further research is needed to explore the association between Joubert syndrome and peripheral nervous system abnormalities. Detailed genetic testing may serve as a valuable tool for diagnosing Joubert syndrome when no prominent abnormalities are detected in brain imaging studies.
Comparative analysis of characteristics based on three processes of kenaf solid fuel: Hydrothermal carbonization, torrefaction and low ash torrefaction
Authors: Youn Hee Sun , Kim Ga Hee , Um Byung-Hwan 
Published: November 2023

Abstract
This study conducted three processes—hydrothermal carbonization (HTC), torrefaction (TOR) and ash removal, and low ash TOR (LA_TOR)—to compare the characteristics of kenaf-based solid fuel under different production processes. To produce solid fuels, the ash removal process was conducted at 50 °C for 60 min in an autoclave, followed by HTC or TOR at various temperatures (160, 200, 240, 280, and 320 °C) for 60 min. The chemical compositions and fuel properties of the resulting products were then analyzed and compared. The study found that under HTC at 320 °C, the product had the highest carbon content compared with the products from TOR and LA_TOR at 320 °C. Thus, out of the three methods, HTC produced the highest quality solid fuel. However, this process exhibited a low energy yield and large energy loss. In contrast, LA_TOR showed a high energy yield and low energy loss, and effectively reduced the ash content of the product, demonstrating its suitability for industrial-scale applications that require fuel with LA content and energy loss.
Layer-dependent effect of Aβ-pathology on cortical microstructure with ex-vivo human brain diffusion MRI at 7 Tesla
Authors: Zhao Zhiyong , Cao Zuozhen , Zhu Qinfeng , Xu Haoan , Li Sihui , Zhu Liangying , Xu Guojun , Zhu Keqing , Zhang Jing , Wu Dan 
Published: November 2023

Abstract
Background
The laminar-specific distributions of Aβ and Tau deposition in the neocortex of Alzheimer’s disease (AD) have been established. However, direct evidence about the effect of AD pathology on cortical microstructure is lacking in human studies.
Methods
We performed high-resolution T2-weighted and diffusion-weighted MRI (dMRI) on fifteen ex-vivo whole-hemisphere specimens, including eight cases with an AD pathology, three cases with primary age-related tauopathy (PART) and four healthy controls (HCs). Using the diffusion tensor model, we evaluated microstructure patterns in six layers of grey matter cortex and performed MRI-histology correlation analysis across cortical layers.
Results
Aβ-positive cases exhibited higher diffusivity than Aβ-negative cases (PART and HC) in selected cortical regions, particularly in the inferior frontal cortex. Both Aβ/Tau depositions and dMRI-based microstructural markers demonstrated distinct cortical layer-dependent and region-specific patterns. A significant positive correlation was observed between increased diffusivity and Aβ burden across six cortical layers, but not with Tau burden. Furthermore, the mean diffusivity in layer-V of the inferior frontal cortex significantly increased with the Amyloid stage.
Conclusion
Our findings demonstrate a layer-dependent effect of Aβ-pathology on cortical microstructure of the human brain, which may be used to serve as early markers of AD pathology.
Associations Between Non-nutritive Sucking Habits, Developing Malocclusion and Various Feeding Practices in 3-6-year-old Indian Urban Children: a Case- Control Study
Authors: Singh Priyanka , Jawdekar Ashwin 
Published: November 2023

Abstract
Background: Nutritive sucking and non-nutritive sucking (NNS) may affect the craniofacial development, differently.
Aim and objectives: We investigated associations between non-nutritive sucking habits (NNSH), developing malocclusion and various feeding practices in 3-6-year-old children.
Study design: A sample of 350 children of 3-6-year-old from various preschools was selected for this case-control study (94 with NNSH and 256 without NNSH). NNSH (outcome) and feeding practices and developing malocclusions (exposures) were assessed using a structured study tool.
Results: The prevalence of NNSH in 3-6- year-old children was 26.8%. The odds [95% (CI)] of boys compared to girls having NNSH were 0.66 (0.4121 to 1.706) [p=.0290]. The overall prevalence of developing malocclusion in 3-6-year-old children was 34.01% out of which open bite was most commonly reported with 12.57% followed by spacing 8.5%, increased overjet 6.8%, crowding 2.2%, posterior crossbite and rotation 1.4% and overbite 1.14%. Breastfeeding was found to be the most commonly used mode of feeding reported by 53.42% of mothers. It was found that the odds [95% (CI)] of subjects having NNSH were 0.66 [0.4694 to 0.9460] (p <.0001) who were not breastfed as compared to those who were breastfed. Amongst developing malocclusions, increased overjet with p =.0019, open bite with p =.0416 and spacing with p =.0243 were found to be associated with feeding practices.
Conclusion: To conclude, the prevalence of NNSH and developing malocclusions (increased overjet, open bite and spacing) were 26.8% and 34.01% respectively. Breastfeeding played a protective role against developing NNSH.
Radiomics models of contrast-enhanced computed tomography for predicting the activity and prognosis of acute pancreatitis
Authors: Yu Ningjun , Li Xing Hui , Liu Chao , Chen Chao , Xu Wenhan , Chen Chao , Chen Yong , Liu TingTing , Chen Tianwu , Zhang Ming 
Published: November 2023

Abstract
Background
The modified Pancreatitis Activity Scoring System (mPASS) was proposed to assess the activity of acute pancreatitis (AP) while it doesn’t include indicators that directly reflect pathophysiology processes and characteristics of imaging.
Objectives
To determine the threshold of admission mPASS and investigate radiomics and laboratory parameters to construct a model to predict the activity of AP.
Methods
AP inpatients at institution 1 were randomly divided into training and validation groups based on a 5:5 ratio. AP inpatients at institution 2 were served as test group. The cutoff value of admission mPASS scores in predicting severe AP was selected to divide patients into high and low level of disease activity group. LASSO was used in screening features. Multivariable logistic regression was used to develop radiomics model. Meaningful laboratory parameters were used to construct combined model.
Results
There were 234 (48 years ± 10, 155 men) and 101 (48 years ± 11, 69 men) patients in two institutions. The threshold of admission mPASS score was 112.5 in severe AP prediction. The AUC of the radiomics model were 0.79, 0.72 and 0.76 and that of the combined model incorporating rad-score and white blood cell were 0.84, 0.77 and 0.80 in three groups for activity prediction. The AUC of the combined model in predicting disease without remission was 0.76.
Conclusions
The threshold of admission mPASS was 112.5 in predicting severe AP. The model base on CECT radiomics has the ability to predict AP activity. Its ability to predict disease without remission is comparable to mPASS.
Prognostic values of left atrial strain analyzed by the dedicated four-dimensional speckle-tracking echocardiography in end-stage renal disease patients with preserved left ventricular ejection fraction
Authors: Li Lei , You Chunyuan , Zhang Lai , Yang Jun , Wang Yang , Zhang Pingyang 
Published: November 2023

Abstract
Background
Little is known about the prognostic value of left atrial strain by four-dimensional speckle-tracking echocardiography in end-stage renal disease(ESRD) patients with preserved left ventricular ejection fraction(LVEF).
Methods
This prospective study collected clinical and echocardiographic data from 80 stable dialysis patients (mean age 57 ± 10 years; 62.5% men). All patients underwent the dedicated four-dimensional speckle-tracking echocardiography to measure LASr (peak longitudinal strain of reservoir function), LAScd (peak longitudinal strain of conduit function), LASct (peak longitudinal strain of contractile function), LASr_c (peak circumferential strain of reservoir function), LAScd_c (peak circumferential strain of conduit function) and LASct_c (peak circumferential strain of contractile function). These patients were enrolled from August 2021 to August 2023 and followed-up for 19months (interquartile-range 15 to 20months). The primary outcome was a composite of all-cause mortality or major adverse cardiovascular events (MACEs). The study patients were classified into event (developed mortality or MACEs) and event-free group according to the primary outcome. Multivariate Cox regression analysis was used to investigate risk factors for all-cause mortality or MACEs.
Results
The event group had lower LASr (16.4% vs. 21.2%, P = 0.0003), LASct (8.2% vs.11.2%, P = 0.01), LASr_c (25.2% vs.35.0%, P = 0.0004) and LASct_c (14.9%vs. 20.9%, P = 0.001) than the event-free group. Using the mean left atrial strain value as a cutoff, the less LASr (LASr < 20.2%), LASr_c (LASr_c < 32.9%), and LASct_c (LASct_c < 19.6%)group had a higher mortality or MACEs rate. Multivariate cox regression analyses revealed that LASr (HR = 0.81, 95% CI [0.17; 0.91], P = 0.0005, per 1% increase) and LASr_c (HR = 0.93, 95% CI [0.87; 0.98], p = 0.01, per 1% increase) were independent predictors of all-cause mortality or MACEs.
Conclusions
Less peak longitudinal and circumferential strains of reservoir function are predictive of poor prognosis among end-stage renal disease patients with preserved left ventricular ejection fraction.
Genetically predicted gynecologic surgery and risk of breast cancer in European population
Authors: Feng Guoliang , Gong Hongyang 
Published: November 2023

Abstract
Purpose
We conducted Mendelian randomization (MR) analyses to investigate the associations between gynecologic surgery and risk of breast cancer.
Methods
We performed MR using publicly accessible genome-wide association study (GWAS) datasets. Our primary analytical method was the inverse variance weighted (IVW) method. Additionally, we utilized complementary methods, including MR-Egger regression, weighted median, and MR-PRESSO. To assess potential horizontal pleiotropy, we conducted the MR-Egger intercept test and employed the global test for pleiotropic residuals and outliers through the MR-Presso method. We also assessed instrumental heterogeneity using the Cochran Q statistic. In addition, we conducted analyses of risk factors to further explore possible mediator relationships for causal inference.
Results
The initial findings from the IVW analysis reveal a statistically significant relationship between hysterectomy and ER- breast cancer (OR(Odds Ratio) = 82.73, 95% Confidence Interval (CI) = 1.45–4.73 × 103, p = 0.032). These results were consistent with those obtained from MR-Egger regression, where bilateral ovariectomy demonstrates a statistically significant link with ER + breast cancer (OR = 6.42 × 10− 2, 95% CI = 6.08 × 10− 3 − 0.68, p = 0.022). Importantly, the robustness of these findings was confirmed in all sensitivity analyses.
Conclusion
Our study reveals an association between gynecological surgery and breast cancer and menorrhagia and irregular menstruation is a potential mediator.
Fabrication of Scalable Mesoporous Zincospiroffite (Zn2Te3O8) -RGO Hybrid Electrodes for Low-Cost High-Performance Supercapacitors
Authors: Ramakrishnan Aswini , Meethal Bhabhina Ninnora , Thekkethil Shaniba , Swaminathan Sindhu 
Published: November 2023

Abstract
A zincospiroffite-reduced graphene oxide (Zn2Te3O8-RGO) hybrid material was synthesized using a straightforward, cost-efficient method for the preparation of an efficient electrode material for supercapacitor application. In ambient conditions, a one-step solvothermal synthesis produces a black glittering composite of Zn2Te3O8-RGO. The structure and morphology of the material was analyzed by using FE-SEM, Fourier Transform Infrared spectroscopy (FTIR), X-ray diffraction (XRD), and Raman scattering. The electrode material was designed to be highly conductive and wettable. A symmetric supercapacitor made of hybrid electrode material exhibits a high specific capacitance of 600 F/g at 1A/g with energy and power densities of 83.33 Wh/kg and 0.99 kW/kg, respectively. A specific capacitance of 513.51 F/g at 10 mV/s with 99% retention has also been measured after 5000 charge-discharge cycles. The hybrid material combines well with an aqueous electrolyte, such as 0.1 M KNO3, to form a symmetric supercapacitor with higher power and energy density. For energy storage applications, this material can be an excellent alternative to conventional electrodes.
Experience in treating children with ocular dyskinesia and hemifacial spasm secondary to pontine tumours adjacent to the fourth ventricle
Authors: Cai Yingjie , Yang Wei , Peng Xiaojiao , Yuan Liu , Ge Ming 
Published: November 2023

Abstract
Objective
To investigate the treatment plan and prognosis of children with ocular dyskinesia and hemifacial spasm secondary to pontine tumours adjacent to the fourth ventricle.
Methods
In this retrospective study, the clinical information of 10 consecutively collected children with ocular dyskinesia and hemifacial spasm secondary to pontine tumours adjacent to the fourth ventricle was analysed. All 10 children underwent pontine tumour resection through a transcerebellomedullary fissure approach; 4 children underwent preoperative diffusion tensor imaging scans to determine the relationship between the tumour and facial nerve nucleus, and the other 6 children underwent intraoperative deep electroencephalography (EEG) tumour monitoring, in which the tumour electrical discharge activity of the tumour was recorded. A voxel distribution map was established to describe the distribution of the tumour location, and patient prognosis was evaluated through clinical and imaging follow-up.
Results
All 10 children achieved total tumour resection; 9 tumours were pathologically suggested to be ganglioglioma (WHO grade I), and 1 was a hamartoma. The symptoms of the original ocular dyskinesia and hemifacial spasm disappeared immediately after the operation. The children were followed up for 4–75 months, and none of the symptoms recurred; four cases with preoperative diffusion tensor imaging showed that the tumour was close to the facial nerve. Four in six intraoperative electrophysiological monitoring showed that the tumour had electrical discharge behaviour, and the tumor distribution map indicates a high density of tumor presence in the facial nerve nucleus and the nucleus of the abducens nerve.
Conclusions
In paediatric patients, the facial symptoms are related to the location and abnormal electrical discharge of the tumour. No significant correlation between ocular dyskinesia and the location of the tumour. Conventional antiepileptic therapy for this disease is ineffective, and early surgical intervention for total tumour resection can achieve a clinical curative effect.
Study on spatial form evolution of traditional villages in Jiuguan under the influence of external traffic changes
Authors: Lin Zurui , Liang Yuan , Liu Xiaohui 
Published: November 2023

Abstract
Traditional villages are China's cultural heritage resources; they carry rich historical and cultural information and have important historical significance and cultural value. Studying their spatial forms can suggest new ideas for the protection of traditional villages. The spatial configuration of traditional villages is shaped by a complex interplay of natural geography, socio-economic factors, transportation infrastructure, and essential facilities. Various developmental scenarios lead to diverse spatial development patterns, each demonstrating unique dynamic characteristics throughout its evolution. This article focuses on the exploration of the spatial morphology of Jiuguan Village, located along the Jingxing Ancient Post Road. By using kernel density analysis, space syntax, spatial form index, and so on, the spatial form of Jiuguan Village was studied from three aspects: public facilities clustering degree, road system, and spatial form index. Through a hierarchical approach involving points, lines, and planes, our study unveils the multifaceted influence of transportation factors on the village's historical development and its dynamic adaptive attributes within the context of traditional village spatial morphology. The results indicated that the location advantage of traffic is the driving force behind land expansion. Secondly, the areas with high traffic accessibility tend to be public spaces in villages. Third, the change in the transportation market will lead to a change in village land use functions. Finally, the renewal of transportation modes will change the spatial scale of the village. This research offers a deeper comprehension of the historical context surrounding traditional villages and provides a scientifically guided framework for heritage preservation and sustainable village development.
Multi-protein targeting potential of some urea, thiourea, and selenourea derivatives of diselenides in leishmaniasis: molecular docking screening, oral bioavailability analysis, ADMET profiling, and molecular dynamics simulation
Authors: Ugbe Fabian Audu , Edache Emmanuel Israel , Ayuba Abdullahi Muhammad , Ibrahim Muhammad Tukur , Umar Abdullahi Bello , Adeniji Shola Elijah , Al-Megrin Wafa Abdullah I. , Eltayeb Lienda Bashier , Thagfan Felwa Abdullah , Albutti Aqel , Al-Shouli Samia , Abdalla Mohnad 
Published: November 2023

Abstract
Leishmaniasis affects more than twelve million people globally and a further one billion people are at risk in leishmaniasis endemic areas. The lack of a vaccine for leishmaniasis coupled with the limitations of existing anti-leishmanial therapies prompted this study. Computational techniques have profound applications in screening large libraries of compounds, studying protein-ligand interactions, analysing pharmacokinetic properties, and designing new drug entities with great speed, accuracy, and precision. This study was carried out to evaluate the multi-protein targeting potential of some diselenides by virtual docking screening using four Leishmania protein targets (2XOX, 3SPX, 5ZWY, and 6K91). Selected analogues were screened using Lipinski filter, and the resulting lead compounds were profiled by ADMET, density functional theory (DFT), and molecular dynamics (MD) simulation analyses. The overall average binding affinity of ligands to target proteins follow the order: 3SPX (-184.998) > 6K91 (-180.114) > 2XOX (-176.581) > 5ZWY (-157.198). Also, both reference drugs (Miltefosine and Pentamidine) showed relatively weaker interactions with the studied receptors. Only compounds 4, 7, 25, and 26 passed the drug-likeness test performed on the seven diselenides with relatively higher multi-protein binding potential. These compounds also showed good pharmacokinetic properties and compared excellently to both reference drugs. The results of the DFT study and MD simulation, suggest the reactivity, favourability, and stability of these compounds in their binding with tested targets; 3SPX and 6K91. Conclusively, the selected diselenides could be developed as potential anti-leishmanial drug molecules and/or as useful scaffolds for designing superior anti-leishmanial agents.
Nutrient resorption efficiency of Heritiera fomes Buch. Ham and Excoecaria agallocha L
Authors: Saha Sanjoy , Rahman Md. Mustafizur , Jahan Roksana , Siddique Mohammad Raqibul Hasan , Saha Chameli , Hossain Mahmood 
Published: November 2023

Abstract

Nutrient resorption is a nutrient conservation approach for plants growing in nutrient-poor habitats. The nutrients (Nitrogen, Phosphorus and Potassium) resorbed from leaves of Heritiera fomes and Excoecaria agallocha in the Sundarbans, Bangladesh were examined. Mature green leaves and yellowish senescent leaves of the dominant individual of each species were picked from the selected trees during the prominent seasons. Soil samples were collected from the same sites and occasions. Comparatively (p < 0.05), a higher concentration of N (12.64 ± 1.05 mg/g), P (0.42 ± 0.18 mg/g) and K (10.79 ± 0.14) was observed in green mature leaves of H. fomes during the monsoon season. Similar (p > 0.05) concentration (8.33 ± 1.07 to 9.76 ± 1.40 mg/g) of N was detected for the green mature leaves of E. agallocha throughout the seasons. In contrast, higher concentrations of P and K were observed in the monsoon season. The highest nitrogen resorption efficiencies for H. fomes and E. agallocha were 76.94% and 63.33%, respectively during the pre-monsoon season followed by post-monsoon season. Heritiera fomes was more efficient in N and K resorption, while E. agallocha was more efficient in P resorption. The nutrient resorption efficiency of H. fomes and E. agallocha indicated the adaptation mechanism towards harsh environments, especially nutrient-poor conditions.