bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the genotype-phenotype spectrum in SCN8A-related disorders
Authors: Hebbar Malavika , Al-Taweel Nawaf , Gill Inderpal , Boelman Cyrus , Dean Richard A , Goodchild Samuel J , Mezeyova Janette , Shuart Noah Gregory , Johnson J. P. , Lee James , Michoulas Aspasia , Huh Linda L , Armstrong Linlea , Connolly Mary B , Demos Michelle K. 
Published: August 2023

Abstract

Background
SCN8A-related disorders are a group of variable conditions caused by pathogenic variations in SCN8A. Online Mendelian Inheritance in Man (OMIM) terms them as developmental and epileptic encephalopathy 13, benign familial infantile seizures 5 or cognitive impairment with or without cerebellar ataxia.
Methods
In this study, we describe clinical and genetic results on eight individuals from six families with SCN8A pathogenic variants identified via exome sequencing.
Results
Clinical findings ranged from normal development with well-controlled epilepsy to significant developmental delay with treatment-resistant epilepsy. Three novel and three reported variants were observed in SCN8A. Electrophysiological analysis in transfected cells revealed a loss-of-function variant in Patient 4.
Conclusions
This work expands the clinical and genotypic spectrum of SCN8A-related disorders and provides electrophysiological results on a novel loss-of-function SCN8A variant.
Machine learning couched treatment algorithms tailored to individualized profile of patients with primary anterior chamber angle closure predisposed to the glaucomatous optic neuropathy
Authors: Kurysheva Natalia I , Rodionova Oxana Y. , Pomerantsev Alexey L. , Sharova Galina A. , Golubnitschaja Olga 
Published: August 2023

Abstract
Background: Primary angle-closure glaucoma (PACG) is still one of the leading causes of irreversible blindness, with a trend towards an increase in the number of patients to 32.04 million by 2040, an increase of 58.4% compared with 2013. Health-risk assessment based on multi-level diagnostics and machine learning couched treatment algorithms tailored to individualized profile of patients with primary anterior chamber angle closure are considered essential tools to reverse the trend and protect vulnerable subpopulations against health-to-disease progression.
Aim: To develop a methodology for personalized choice of an effective method of primary angle closure (PAC) treatment based on comparing the prognosis of intraocular pressure (IOP) changes due to laser peripheral iridotomy (LPI) or lens extraction (LE).
Methods: The multi-parametric data analysis was used to develop models predicting individual outcome of the primary angle closure (PAC) treatment with LPI and LE. For doing this, we suggested a positive dynamics in the intraocular pressure (IOP) after treatment, as the objective measure of a successful treatment. Thirty seven anatomical parameters have been considered by applying artificial intelligence to the prospective study on 30 (LE)+30 (LPI) patients with PAC.
Results and data interpretation in the framework of 3P medicine: Based on the anatomical and topographic features of the patients with PAC, mathematical models have been developed that provide a personalized choice of LE or LPI in the treatment. The multi-level diagnostics is the key-tool in the overall advanced approach. To this end, for the future application of AI in the area it is strongly recommended to consider
1. clinically relevant phenotyping applicable to advanced population screening
2. systemic effects causing suboptimal health conditions considered in order to cost-effectively protect affected individuals against health-to-disease transition
3. clinically relevant health risk assessment utilizing health/disease-specific molecular patterns detectable in body fluids with high predictive power such as a comprehensive tear fluid analysis.
Fully endoscopic microvascular decompression for trigeminal neuralgia: our technical note and early outcomes
Authors: Guan Hongpeng , li Shiting , Wang Xuhui 
Published: August 2023

Abstract
Purpose:
Microscopic microvascular decompression (MVD) has been considered as a curative and reliable method for primary trigeminal neuralgia (TN) treatment for decades. However, the omission of offending vessels due to inadequate visualization often results in failure or recurrence after operation. Endoscope can provide bright illumination and panoramic view which enhance the visualization of posterior fossa.
The study presented here is to evaluate the advantages of fully endoscopic microvascular decompression for TN therapy and describe our operative technical note.
Methods:
From January 2020 to January 2022, 95 primary TN patients underwent fully endoscopic MVD operation performed by the same surgeon and assistant in our department. The assistant held the endoscope and the surgeon operated. Brain stem auditory evoked potentials (BEMPs) was routinely monitored. For very patient, the neurovascular conflict was identified and obtained complete decompression. Barrow neurological institute (BNI) pain intensity score was used to evaluate the facial pain degree. The intra-operative findings, postoperative outcomes, and complications were analyzed.
Results:
Immediately after operations, 93 patients (97.9%) achieved complete pain relief (BNI score of I). 2 patients (2.1%) still had some pain, but it can be adequately controlled with medicine (BNI score of III). During 12–36 months follow-up, recurrence was found in 3 patients (3.2%), including one patient (1.1%) with BNI score of II and 2 patients (2.1%) with BNI score of III. Complications were found in 5 patients (5.3%), including facial numbness in 3 patients (3.2%), vertigo in one patient (1.1%), and headache in one patient (1.1%). There was no death, stroke, hearing impairment, facial paralysis, or other complications.
Conclusions:
Fully endoscopic MVD is a safe and effective method to treat TN. It provides bright illumination and panoramic view for surgeons to observe neurovascular conflicts in deep place of the cerebellopontine angle (CPA) that is very helpful in avoiding omission of offending vessels and injury of adjacent neurovascular structures.
Acute and continuous exposure of airborne fine particulate matter (PM 2.5 ): Diverse outer blood–retinal barrier damages and disease susceptibilities
Authors: Gu Yuzhou , Sheng Feiyin , Gao Mengqin , Zhang Li , Hao Shengjie , Chen Shuying , Chen Rongrong , Xu Yili , Wu Di , Han Yu , Chen Lu , Liu Ye , Lu Bing , Zhao Wei , Lou Xiaoming , Chen Zhijian , Li Peng , Wang Xiaofeng , Yao Ke , Fu Qiuli 
Published: August 2023

Abstract
Background
The association between air pollution and retinal diseases such as age-related macular degeneration (AMD) has been demonstrated, but the pathogenic correlation is unknown. Damage to the outer blood–retinal barrier (oBRB), which consists of the retinal pigment epithelium (RPE) and choriocapillaris, is crucial in the development of fundus diseases.
Objectives
To describe the effects of airborne fine particulate matter (PM2.5) on the oBRB and disease susceptibilities.
Methods
A PM2.5-exposed mice model was established through the administration of eye drops containing PM2.5. Optical coherence tomography angiography, transmission electron microscope, RPE immunofluorescence staining and Western blotting were applied to study the oBRB changes. A co-culture model of ARPE-19 cells with stretching vascular endothelial cells was established to identify the role of choroidal vasodilatation in PM2.5-associated RPE damage.
Results
Acute exposure to PM2.5 resulted in choroidal vasodilatation, RPE tight junctions impairment, and ultimately an increased risk of retinal edema in mice. These manifestations are very similar to the pachychoroid disease represented by central serous chorioretinopathy (CSC). After continuous PM2.5 exposure, the damage to the RPE was gradually repaired, but AMD-related early retinal degenerative changes appeared under continuous choroidal inflammation.
Conclusion
This study reveals oBRB pathological changes under different exposure durations, providing a valuable reference for the prevention of PM2.5-related fundus diseases and public health policy formulation.
Revealing the abnormal meiosis and the variation of the functional female gametes of aneuploid lily (Lilium) using genomic in situ hybridization (GISH)
Authors: Xiao Kongzhong , Sun Yanni , Zhou Shujun 
Published: August 2023

Abstract

Aneuploid lilies (Lilium) could be obtained from the LAA/LAAA × AA/AAAA hybridization; however, the characteristics of their meiosis and fertility has not been reported. In this study, an aneuploid lily, J1614, was extensively investigated for its microsporogenesis, fertility and functional eggs using conventional and modern cytogenetic methods. The results indicated that J1614 was an aneuploid Longiflorum-Asiatic (LA) lily (2n = 48 = 7L + 39A + 2L/A) while ‘Pearl Jason’ was an autotetraploid Asiatic lily (2n = 48A); L-chromosomes of J1614 usually formed univalent while A-chromosomes associated not only predominantly trivalents, but also tetravalents, bivalents, and even univalent at metaphase I as well; clearly, both univalents and other associated chromosomes were separated and moved to opposite poles at anaphase I; besides, lagging chromosomes and micronuclei were observed during microsporogenesis. Hybridization showed that J1614, regardless of its male sterility, had better partial female fertility when tetraploid a lily was used as male than when a diploid as male. The nine seedlings of J1614 × AAAA were all aneuploid with variable total chromosomes ranging from 46 to 53, meaning that the functional eggs produced by J1614 contained variable chromosomes ranging from 22 to 29. Based on the present results, we concluded that once good lines are selected from aneuploid lilies, they may not only become cultivars through vegetative propagation, but also become parents to breed new aneuploids and realize introgression breeding. In addition, the mechanism of abnormal meiosis of aneuploid lilies was hypothesized.
Biodegradation of municipal plastic wastes collected from solid waste landfills of Jammu, India
Authors: singh Brajeshwar , Sharma Ankita , . Vironika 
Published: August 2023

Abstract

Plastics are non-biodegradable, strong, durable, moisture resistant, light weight polymers of carbon along with hydrogen, nitrogen, sulphur, and other organic and inorganic elements and are manufactured from fossil fuel which is a non-renewable source. Low density polyethylene is the most commonly occurring non-biodegradable waste material which constitutes approximately 60% of the total plastic production. In the present study, an attempt has been made to isolate, screen, and characterize the most efficient polyethylene degrading bacteria by using partially degraded polyethylene samples with adhered soil collected from two municipal waste dumping grounds of Jammu region. A total of 62 bacterial isolates were obtained from different waste disposal sites were screened on synthetic Medium. Low density polyethylene powder was used as the sole carbon source in synthetic medium. The biodegradation activity of the isolates was investigated based on the percent weight loss and percent loss in tensile strength of the polyethylene. Maximum percent weight loss (%WL; 22.66) was recorded with MB57 after 2 months of shaking at room temperature. Maximum percent loss in tensile strength (% loss in TS; 74.35) was documented MB57. Further, the level of degradation was confirmed by scanning electron microscopic (SEM) analysis. In SEM analysis, scions/ crakes were found on the surface of the degraded polyethylene.
Fish diversity, assemblage pattern along with the environmental variables in tidal fresh water stretch in the Hooghly estuary of Gangetic delta, West Bengal, India
Authors: Majhi Bhuban Mohan , Dey Chiranjeeb , Nath Ashim Kumar 
Published: August 2023

Abstract

The greatest estuary created by the Gangetic delta in India is the Hooghly estuary. Despite their importance to the estuarine biodiversity, the tidal freshwater areas of this estuary have gained little interest from ecologists. Present study aims to explore the fish diversity with its assemblage pattern and their relationship with physico-chemical parameters from June 2020 to May 2021. There have been identified 118 species in total, from 14 orders and 47 families, with seven (7) being near threatened, fifteen (15) vulnerable, four (4) endangered, and eight (8) not evaluated. Perciformes (29.66%), Cypriniformes (22.88%), and Siluriformes (21.18%) accounted for 73.72% of the overall species count. Station-1 has significantly higher species richness, rarefied richness, and abundance. Station-3 and station-2 followed station-1 respectively. The composition of fish species changed significantly among the stations, as shown by cluster analysis, nMDS (nonmetric multidimensional scaling), ANOSIM (analysis of similarities), and SIMPER (similarity percentage analysis) (p < 0.05). The canonical correspondence analysis revealed that alkalinity, conductivity, phosphate, and total carbon dioxide of the water were the key environmental parameters. In addition to defining a sustainable management method for the fish resources in the Hooghly estuary, this effort will act as a baseline study for further investigation.
Automated Fruit-ripeness Categorization for Enhanced Shelf Life: A Case Study on Pakistani Chaunsa Mango Using Fusion of Deep Features
Authors: Imran Muhammad , Tahir Syed Fahad , Fahad Labiba Gillani 
Published: August 2023

AbstractEnhancing the longevity of fruits not only mitigates food waste but also amplifies market sales revenue. The attainment of an extended shelf life can be realized by implementing an efficient fruit-ripeness categorization methodology during the packaging phase. The current classification approaches, comprising three categories of "good," "average," and "poor," primarily evaluate fruit quality rather than maturity, which is a crucial factor specifically for mangoes. In contrast, our proposed approach defines four ripeness categories: "Under-ripe," "Over-ripe," "Ripe (Good)," and "Damaged." As a case study, we focus on the Pakistani Chaunsa Mango variety, acquiring 2000 images directly from the farms prior to packaging. Subsequently, we enlist the expertise of professionals to classify these images into the four predefined categories. Following this, we introduce an automated mango categorization method utilizing the Support Vector Machine (SVM) machine learning model. To train the SVM model, we employ a fusion technique that integrates deep features extracted from three convolutional neural network (CNN) models, namely VGG13, VGG16, and VGG19. Our proposed model accepts RGB images as input and generates the corresponding ripeness category as output. To validate the effectiveness of our approach, we conduct comprehensive experiments. The results exhibit an impressive accuracy of 87.78% on the Chaunsa Mango dataset, surpassing the current state-of-the-art methods. Moreover, we plan to make our dataset publicly available, enabling the scientific community to conduct further experimentation and research in this domain.
CTNNB1-mutation-related immune gene prognostic model (CMRIPM) for hepatocellular carcinoma: Development and validation
Authors: Li Rui-Zhe , Ding Zi-Niu , Meng Guang-Xiao , Liu Hui , Xue Jun-Shuai , Yan Lun-Jie , Dong Zhao-Ru , Hong Jian-Guo , Chen Zhi-Qiang , Tian Bao-Wen , Han Cheng-Long , Wang Dong-Xu , Li Tao 
Published: August 2023

Abstract

Purpose: HCC is the sixth most common type of cancer and has the third highest fatality rates out of all cancers worldwide. The CTNNB1 mutations play a vital role in determining the immune microenvironment of HCC. Currently, there exists a wide range of therapies available for HCC patients, however, these treatments offer restricted improvements in survival rates. Therefore, it is especially important for clinicians to have a tool that predicts a patient's prognosis and guides treatment.
Methods: Our study focused on examining the correlation between CTNNB1 mutations and the tumor microenvironment in HCC. Additionally, we performed WGCNA to analyze the impact of CTNNB1 mutations on the immune microenvironment and CTNNB1 mutations status. In the LIHC cohort(n=350), a prognostic model called CMRIPM was developed to stratify HCC patients into low- and high-risk group and predict prognosis based on immune genes related to CTNNB1 mutations. The prognostic validity of the CMRIPM was confirmed in a meta-GEO cohort(n=400). Furthermore, in order to enhance the practical application of the CMRIPM, a nomogram was created and its dependability was validated through various techniques.
Results: A CMRIPM was performed based on the CTNNB1 mutation status involved in the immune microenvironment of HCC. This analysis can serve as a standalone indicator for the OS of HCC patients and indicate the overall strength of the immune response in the HCC microenvironment. Significantly, the CMRIPM provides an immunologic perspective to clarify the factors influencing the clinical result of individuals with HCC and has the potential to categorize HCC patients into distinct groups with different immunotherapy and chemotherapy suitability.
Conclusion: There is a notable association between the CTNNB1 mutation status and the immune microenvironment in HCC. Additionally, the CMRIPM has the potential to act as a reliable prognostic biomarker for patients with HCC, offering valuable guidance to clinicians in their decision-making process for HCC patients.
Higher stress load in the lateral compartment after over-corrected UKA compared with HTO: a 3d-finite-element analysis
Authors: Wang Wenqiang , Zhang Penfei , Li Hui , Pan Chunang , Yang Xucheng 
Published: August 2023

Abstract
Background
The purpose of this study was to utilize a 3D finite-element(FE)model to analyze why there are differences in stress distribution in the knee joint between unicompartmental knee replacement༈UKA༉and high tibial osteotomy༈HTO༉ under the same force line.
Methods
The stress of the lateral meniscus, tibial plateau and inferior tibial plateau bone in healthy, OA, standard UKA, overcorrected UKA and HTO were assessed using FE models. In terms of stress load, standing is simulated by applying vertical static load, and then the stress distribution of knee joints in each group is compared.
Results
The results showed that the overcorrected UKA had significantly higher stresses in the lateral meniscus, lateral tibial plateau and below the plateau compared to the HTO. Also, the stress distribution in the knee joint after HTO is closer to that of a healthy knee due to the bridging effect of the lateral tibial Tomofix plate.
Conclusion
In general, when the lower limb force lines in UKA are corrected to the same level as in HTO, the stress distribution in the knee joint in HTO is close to physiological due to the bridging effect of the Tomofix plate. In contrast, the stresses on the lateral compartment of the UKA are significantly higher and more prone to lateral compartment OA.
Longitudinal association between possible sarcopenic obesity and depression among the middle-aged and the elderly: The evidence from CHARLS
Authors: Zhang Yingxiao , Yu Jing , Wu Yongxin , Zhao Yuxing , Zhang Li , Liu Xia , Chen Deqing , Wu Yaoxuan , Li Yuanfen , Luo Kang , Zhou Min , Cheng Pan , Xu Lingjie , Sun Yue , Xiao Qian 
Published: August 2023

Abstract
Purpose
Currently, the association of depression with sarcopenia and obesity status is unclear. We investigated the role of three types of possible sarcopenic obesity [possible sarcopenic central obesity (PSCO), possible sarcopenic general obesity (PSGO), possible sarcopenic visceral obesity (PSVO)] as risk factors for depression among the middle-aged and the elderly.
Methods
We adopted a longitudinal design utilizing data from the China Health and Retirement Longitudinal Study. We evaluated depression using the CES-D-10. Basic characteristics analysis and age-stratified logistic regression models were employed.
Results
6 006 participants without depression and 1 853 with depression were included. Among middle-aged participants, associations were observed in possible sarcopenia with obesity (PS/O) group (OR = 1.78, 95% CI: 1.02–3.12, p = 0.043) and possible sarcopenia without obesity (PS) group (OR = 1.58, 95% CI: 1.16–2.13, p = 0.003) after full-adjustment regarding PSGO. The associations within PSVO mirrored those observed in PSGO. For PSCO, only PS group demonstrated an association (OR = 1.66, 95% CI: 1.12–2.45, p = 0.011) after full-adjustment. Among the elderly, the PS group (OR = 1.27, 95% CI: 1.03–1.57, p = 0.027) exhibited an increased risk of depression after full-adjustment regarding PSGO. No association was detected after full-adjustment in PSVO and PSCO. The results obtained through complete case and multiple imputation method were comparable, although multiple imputation revealed more significant associations between PS group and depression within PSCO and PSVO in the elderly.
Conclusion
For the middle-aged, PSGO and PSVO were significantly associated with depression. Moreover, PSGO and PSVO were superior to PSCO as risk factors for depression. For the elderly, possible sarcopenia was significantly associated with depression.
Causal Relationship Between Systemic Lupus Erythematosus and Osteoporosis: A Mendelian Randomization Analysis
Authors: Wu Bing , Xu Danfeng 
Published: August 2023

Abstract
Background
Systemic Lupus Erythematosus (SLE) and Osteoporosis are two prevalent medical conditions. Previous studies have suggested a possible correlation between SLE and osteoporosis, though the underpinning causal relationship remains largely unknown. The current study aimed to elucidate the causal association between SLE and osteoporosis by employing a Mendelian randomization (MR) approach.
Methods
We performed two-sample MR analysis using the inverse variance-weighted (IVW), weighted median, and MR-Egger methods on publicly available summary statistics datasets using a SLE genome-wide association study (GWAS) as an exposure and osteoporosis GWASs in people with East Asia ancestry as outcomes. The pleiotropy and heterogeneity were examined using a variety of techniques, including the MR-Egger intercept, the MR-PRESSO approach, and the Cochran’s Q test.
Results
We selected 74 single-nucleotide polymorphisms from a SLE GWAS as instrumental variables for osteoporosis. The IVW (p < 0.05) and weighted median (p < 0.05) method results support a causal association between SLE and osteoporosis. MR-Egger intercept (p = 0.3474) and MR-PRESSO global test (p = 0.3285) did not suggest evidence of horizontal or directional pleiotropy. Cochran’s Q test (p = 0.3027) showed that there was no heterogeneity between IVs.
Conclusion
This MR analysis provides insight into the potential causal relationship between SLE and osteoporosis, emphasizing the potential contribution of SLE-associated genetic variants to osteoporosis risk.