bluuebunny/crossref_metadata_2025_split huggingface dataset:
Impact of genetically predicted characterization of mitochondrial DNA quantity and quality on osteoarthritis
Authors: Liu Houpu , Cai Bingyue , Gong Ruicheng , Yang Ye , Wang Jing , Zhou Dan , Yu Min , Li Yingjun 
Published: February 2023

Background: Existing studies have indicated that mitochondrial dysfunction may contribute to osteoarthritis (OA) development. However, the causal association between mitochondrial DNA (mtDNA) characterization and OA has not been extensively explored.Methods: Two-sample Mendelian randomization was performed to calculate the impact of mitochondrial genomic variations on overall OA as well as site-specific OA, with multiple analytical methods inverse variance weighted (IVW), weighted median (WM), MR-Egger and MR-robust adjusted profile score (MR-RAPS).Results: Genetically determined mitochondrial heteroplasmy (MtHz) and mtDNA abundance were not causally associated with overall OA. In site-specific OA analyses, the causal effect of mtDNA abundance on other OA sites, including hip, knee, thumb, hand, and finger, had not been discovered. There was a suggestively protective effect of MtHz on knee OA IVW OR = 0.632, 95% CI: 0.425–0.939, p-value = 0.023. No causal association between MtHz and other different OA phenotypes was found.Conclusion: MtHz shows potential to be a novel therapeutic target and biomarker on knee OA development. However, the variation of mtDNA abundance was measured from leukocyte in blood and the levels of MtHz were from saliva samples rather than cartilage or synovial tissues. Genotyping samples from synovial and cartilage can be a focus to further exploration.
Identification of gene mutations in six Chinese patients with maple syrup urine disease
Authors: Li Lulu , Mao Xinmei , Yang Nan , Ji Taoyun , Wang Shunan , Ma Yulan , Yang Haihe , Sang Yuting , Zhao Jinqi , Gong Lifei , Tang Yue , Kong Yuanyuan 
Published: February 2023

Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive amino acid metabolic disease. This study is to identify the pathogenic genetic factors of six cases of MUSD and evaluates the application value of high-throughput sequencing technology in the early diagnosis of MUSD.Methods: Clinical examination was carried out for patients and used blood tandem mass spectrometry (MS/MS), urine gas chromatography-mass spectrometry (GC/MS), and the application of high-throughput sequencing technology for detection. Validate candidate mutations by polymerase chain reaction (PCR)—Sanger sequencing technology. Bioinformatics software analyzed the variants’ pathogenicity. Using Swiss PDB Viewer software to predict the effect of mutation on the structure of BCKDHA and BCKDHB proteins.Result: A total of six MSUD patients were diagnosed, including four males and two females. Nine variants were found in three genes of six MSUD families by high-throughput sequencing, including four missense mutations: c.659C&gt;T(p.A220V), c.818C&gt;T(p.T273I), c.1134C&gt;G(p.D378E), and c.1006G&gt;A(p.G336S); two non-sense mutations: c.1291C&gt;T(p.R431*) and c.331C&gt;T(p.R111*); three deletion mutations: c.550delT (p.S184Pfs*46), c.718delC (p.P240Lfs*14), and c.795delG (p.N266Tfs*64). Sanger sequencing’s results were consistent with the high-throughput sequencing. The bioinformatics software revealed that the mutations were harmful, and the prediction results of Swiss PDB Viewer suggest that variation affects protein conformation.Conclusion: This study identified nine pathogenic variants in the BCKDHA, BCKDHB, and DBT genes in six MSUD families, including two novel pathogenic variants in the BCKDHB gene, which enriched the genetic mutational spectrum of the disease. High-throughput sequencing is essential for the MSUD’s differential diagnosis, early treatment, and prenatal diagnosis.
Annual variations of abundance, egg production rate, and community structure of Oithona similis in Jiaozhou Bay, the Yellow Sea
Authors: Yin Jiehui , Wu Cunchao , Shen Pingping , Wan Aiyong , Tao Zhencheng , Wang Yantao 
Published: February 2023

In marine ecosystems, copepods (&lt;2 mm) play an important role in the transfer of carbon and energy to higher tropic levels. Investigations in Jiaozhou Bay were carried out throughout 2017–2018, combined with laboratory experiments. The annual abundance, egg production, female prosome length, female carbon mass, clutch size, population composition, and development time of Oithona similis at different temperatures were analyzed to assess the life strategies and estimate generation cycles of O.similis in typical temperate regions at mid-latitude, represented by Jiaozhou Bay. The results include: 1) O.similis abundance was characterized by bimodal cycles, with the major peak in winter (1471 ± 206 ind/m³) and the minor peak in spring (740 ± 320 ind/m³). O. similis abundance was not subject to food limitations except in January. The lower abundance was mainly affected by temperature (&gt;20°C) and low salinity in August. Predation from large size zooplankton was one of the factors in regulating O. similis abuncance in Jiaozhou Bay. 2) Over the year, the egg production rate, female prosome length, and female carbon mass of O.similis ranged from 0.03 ± 0.02 to 1.21 ± 0.25 eggs female-1d-1, 410 ± 6 to 472 ± 4 μm, and 0.35 ± 0.05 to 0.43 ± 0.03 μg c female-1 respectively. Female prosome length, and female carbon were both significantly negative correlated with temperature(P&lt;0.01). The clutch size of O.similis varied between 4 and 21 and we did’t find it was related with other factors. 3) O. similis appeared at almost all stages, and reproduced continuously throughout the year. According to the sex ratio of O.similis and other factors, we inferred that O. similis produced four generations per year in Jiaozhou Bay.
Experimental investigation and optimization of lightweight concrete bricks developed using vermiculite
Authors: Ganasen Nakkeeran , Bahrami Alireza , Loganathan Krishnaraj 
Published: February 2023

Concrete production requires a wealth of resources, including cement, aggregate, and water. Therefore, in terms of maintaining the Earth’s natural ecosystems and resources, researchers need to find sustainable and green methods for producing concrete. The focus of the current research was the use of potentially harmful alternative aggregates to manufacture lightweight concrete bricks. In this study, cement, fine aggregates, and vermiculite were the concrete brick mix components. Three trail mixes were followed by a replacement ratio of 60:40, 50:50, and 40:60 for fine aggregates in bricks. Statistical techniques were exerted to compare all the experimental results. Initially, regression analysis was employed to determine the precise relationship between the dependent and independent variables of the study. Furthermore, the compressive strength of the concrete brick was investigated. As a result of the research, vermiculite concrete bricks with the compressive strengths ranging from 3.2 to 5.9 N/mm2 and densities ranging from 1,780 to 2,142 kg/m3 were obtained. The regression model captured the variability of the data, as evidenced by the suitable R2 threshold (R2 &gt; 0.9935). Subsequently, every property of the concrete bricks was predicted using regression, surface plots, main plots, and a heatmap. The conclusion of the study demonstrated that the models generated very effective results.
SARS-CoV-2-specific antibody responses following BNT162b2 vaccination in individuals with multiple sclerosis receiving different disease-modifying treatments
Authors: Lambrianides Anastasia , Deeba Elie , Hadjiagapiou Maria , Pantzaris Marios , Krashias George , Christodoulou Christina 
Published: February 2023

IntroductionThe study aims to evaluate the concentration of IgG antibodies against the receptor-binding domain of the SARS-CoV-2 spike1 protein (S1RBD) in BNT162b2- vaccinated relapsing-remitting multiple sclerosis (RRMS) individuals receiving disease-modifying treatments (DMTs).MethodsSerum from 126 RRMS volunteers was collected 3 months after the administration of the second dose of the Pfizer-BioNTech BNT162b2 vaccine. Additional samples were analyzed after the administration of the booster dose in fingolimod- treated MS. Anti-S1RBD IgG antibody concentrations were quantified using the ABBOTT SARS-CoV-2 IgG II Quant assay.ResultsAnti-S1RBD IgG antibody concentrations in RRMS individuals receiving natalizumab, interferons, teriflunomide, and dimethyl fumarate showed no significant difference to those in healthy controls. However, fingolimod-treated MS individuals showed a marked inability to produce SARS-CoV-2- specific antibodies (p &lt; 0.0001). Furthermore, a booster dose was not able to elicit the production of IgG antibodies in a large portion of matched individuals.DiscussionA possible explanation for the altered immune response in fingolimod- treated MS individuals could be due to the medication inhibiting the circulation of lymphocytes, and possibly in turn inhibiting antibody production. Overall, patients on DMTs are generally of no disadvantage toward mounting an immune response against the vaccine. Nevertheless, further studies require evaluating non-humoral immunity against SARS-CoV-2 following vaccination, as well as the suitability of such vaccinations on patients treated with fingolimod.
A clinical study of C arm-guided selective spinal nerve block combined with low-temperature plasma radiofrequency ablation of dorsal root ganglion in the treatment of zoster-related neuralgia
Authors: Zhang Zhen-Wu , Zhao Yan , Du Tian-Yi , Zhang Juan , Wu Qiong , Wang Zhe-Yin 
Published: February 2023

BackgroundThis study evaluated the analgesic efficacy and psychological response of low-temperature plasma ablation of dorsal root ganglion (DRG) combined with selective spinal nerve block in patients with acute or subacute zoster-related neuralgia (ZRN).MethodsTotally 90 ZRN patients were randomly and evenly divided into three groups. Treatment was given to Group A using C arm-guided selective spinal nerve block (C-SSVB), Group B using C-SSVB and pulsed radiofrequency (PRF), and Group C using C-SSVB and low-temperature plasma ablation of the DRG. The outcomes were examined using the Visual Analog Scale (VAS). Anxiety and depression of patients were evaluated using the Self-rating Anxiety Scale (SAS) and Self-rating Depression Scale (SDS). Quality of life was assessed using the Pittsburgh Sleep Quality Index (PSQI) and postoperative Satisfaction scale. In addition, data on adverse events and medication usage rates were collected.ResultsThe 90 patients were eligible for this study. The three treatments reduced VAS scores with no significant difference between groups A and B at the same time points; however, group B tended to have numerically lower VAS scores. Comparatively, group C had significantly reduced VAS scores on day 1 and 1 month after treatment compared with the other two groups. In terms of the decreasing SAS, SDS and PSQI scores, all the three treatments improved the anxiety, depression and sleep quality of the patients. In addition, significant alleviation in anxiety was found in group C compared with group A at all- time points. However, there was no statistically significant difference among the three groups in treatment-related adverse events that mainly focused on puncture pain at the surgical-site, skin numbness and medication usage rates.ConclusionsC-SSVB and LTPRA of DRG will be considered as a promising treatment option for ZRN patients if those results can be confirmed after further validation.
Abnormal amplitude of low-frequency fluctuation values as a neuroimaging biomarker for major depressive disorder with suicidal attempts in adolescents: A resting-state fMRI and support vector machine analysis
Authors: Zhou Yang , Song Yu , Chen Cheng , Yan Shu , Chen Mo , Liu Tao 
Published: February 2023

ObjectiveMajor depressive disorder (MDD) is associated with suicidal attempts (SAs) among adolescents, with suicide being the most common cause of mortality in this age group. This study explored the predictive utility of support vector machine (SVM)-based analyses of amplitude of low-frequency fluctuation (ALFF) results as a neuroimaging biomarker for aiding the diagnosis of MDD with SA in adolescents.MethodsResting-state functional magnetic resonance imaging (rs-fMRI) analyses of 71 first-episode, drug-naive adolescent MDD patients with SA and 54 healthy control individuals were conducted. ALFF and SVM methods were used to analyze the imaging data.ResultsRelative to healthy control individuals, adolescent MDD patients with a history of SAs showed reduced ALFF values in the bilateral medial superior frontal gyrus (mSFG) and bilateral precuneus. These lower ALFF values were also negatively correlated with child depression inventory (CDI) scores while reduced bilateral precuneus ALFF values were negatively correlated with Suicidal Ideation Questionnaire Junior (SIQ-JR) scores. SVM analyses showed that reduced ALFF values in the bilateral mSFG and bilateral precuneus had diagnostic accuracy levels of 76.8% (96/125) and 82.4% (103/125), respectively.ConclusionAdolescent MDD patients with a history of SA exhibited abnormal ALFF. The identified abnormalities in specific brain regions may be involved in the pathogenesis of this condition and may help identify at-risk adolescents. Specifically, reductions in the ALFF in the bilateral mSFG and bilateral precuneus may be indicative of MDD and SA in adolescent patients.
Gauging response time distributions to examine the effect of facial expression inversion
Authors: Bimler David L. , Paramei Galina V. 
Published: February 2023

IntroductionWe used images of facial expressions (FEs) of emotion in a speeded Same/Different task to examine (i) distributional characteristics of response times (RTs) in relation to inter-stimulus similarity and (ii) the impact of inversion on FE processing.MethodsStimuli were seven emotion prototypes, posed by one male and one female, and eight intermediate morphs. Image pairs (N = 225) were presented for 500 ms, upright or inverted, in a block design, each 100 times.ResultsFor both upright and inverted FEs, RTs were a non-monotonic function: median values were longest for stimulus pairs of intermediate similarity, decreasing for both more-dissimilar and more-similar pairs. RTs of “Same” and “Different” judgments followed ex-Gaussian distributions. The non-monotonicity is interpreted within a dual-process decision model framework as reflecting the infrequency of identical pairs, shifting the balance between the Same and Different processes. The effect of stimulus inversion was gauged by comparing RT-based multidimensional scaling solutions for the two presentation modes. Solutions for upright and inverted FEs showed little difference, with both displaying some evidence of categorical perception. The same features appeared in hierarchical clustering solutions.DiscussionThis outcome replicates and reinforces the solutions derived from accuracy of “Different” responses reported in our earlier companion paper. We attribute this lack of inversion effect to the brief exposure time, allowing low-level visual processing to dominate Same/Different decisions while elevating early featural analysis, which is insensitive to face orientation but enables initial positive/negative valence categorization of FEs.
Psychomotor performances relevant for driving under the combined effect of ethanol and synthetic cannabinoids: A systematic review
Authors: Giorgetti Arianna , Orazietti Vasco , Busardò Francesco Paolo , Giorgetti Raffaele 
Published: February 2023

ObjectiveTo determine whether the acute co-consumption of ethanol and synthetic cannabinoids (SCs) increases the risk of a motor vehicle collision and affects the psychomotor performances relevant for driving.DesignSystematic review of the literature.Data sourcesElectronic searches were performed in two databases, unrestricted by year, with previously set method and criteria. Search, inclusion and data extraction were performed by two blind authors.ResultsTwenty articles were included, amounting to 31 cases of SCs-ethanol co-consumption. The impairment of psychomotor functions varied widely between studies, ranging from no reported disabilities to severe unconsciousness. Overall, a dose-effect relationship could not be observed.ConclusionDespite the biases and limitations of the literature studies, it seems likely that the co-consumption poses an increased risk for driving. The drugs might exert a synergistic effect on the central nervous system depression, as well as on aggressiveness and mood alterations. However, more research is needed on the topic.
Surgical decision-making for individuals with differences of sex development: Stakeholders’ views
Authors: Weidler Erica M. , Gardner Melissa , Suorsa-Johnson Kristina I. , Schafer-Kalkhoff Tara , Rutter Meilan M. , Sandberg David E. , van Leeuwen Kathleen 
Published: February 2023

IntroductionAdvocacy and human rights organizations have called for a moratorium on elective surgical procedures until the patient is able to fully participate in the decision-making process. Due to the controversial nature surrounding surgery in differences of sex development (DSD) care, we aimed to assess the factors that teens and adults with DSD, parents, healthcare providers and other allied professionals consider pertinent to complex surgical decisions in DSD.MethodsStakeholders (n=110) in DSD care participated in semi-structured interviews exploring features and potential determinants of successful healthcare outcomes. Audio-recordings were transcribed, coded, and analyzed using qualitative data software. Codes for “Process of Decision-Making” and “Successful Outcome–Surgery/Appearance/Function” were further searched using keywords “surgery,” “procedure,” and “timing.”ResultsSeveral themes were identified: 1) The nature or type of the decision being made; 2) Who should be involved in the decision-making process; 3) Timing of conversations about surgery; 4) Barriers to decision-making surrounding surgery; 5) The elements of surgical decision-making; and 6) The optimal approach to surgical decision-making. Many stakeholders believed children and adolescents with DSD should be involved in the process as developmentally appropriate.ConclusionDSD include a wide range of diagnoses, some of which may require urogenital reconstruction to relieve obstruction, achieve continence, and/or address other anatomical differences whether cosmetic or functional. Adolescents and adults with DSD desired autonomy and to be part of the decision-making process. Parents were divided in their opinion of who should be involved in making elective surgical decisions: the child or parents as proxy medical decision-makers. Providers and other professionals stressed the importance of process and education around surgical decisions. Ongoing research examines how decision-makers evaluate tradeoffs associated with decision options.
Standard approach and future perspective for the management of benign prostatic hyperplasia from a health-economics point of view: the role of transperineal laser ablation
Authors: Lorenzoni Valentina , Palla Ilaria , Manenti Guglielmo , Ditonno Pasquale , de Reijke Theo M. , Turchetti Giuseppe 
Published: February 2023

IntroductionBenign prostatic hyperplasia (BPH) is a common diagnosis among the ageing male population over 60 years and it is associated with the development of lower urinary tract symptoms (LUTS): dysuria, nocturia, increased frequency of urination, etc. LUTS negatively affect the patient’s daily activities and the quality of life. Patients with severe and persisting symptoms, not responding to pharmacological therapy, are candidates for surgical intervention. Transurethral resection of the prostate (TURP) has been the gold standard for surgical approach despite it can be associated with significant complications. Indeed, laser vaporization or enucleation are today the most broadly used surgical techniques and other minimally invasive surgical therapies (MISTs) have been introduced to reduce some complications during- and post-surgery. Moreover, a new micro-invasive approach for LUTS is represented by EchoLaser SoracteLite™ transperineal laser ablation (TPLA), an innovative, safe and feasible approach that can be performed under local anaesthesia and in an outpatient setting.ObjectiveThe paper aims to analyse and discuss the economic implications of standard surgical techniques and innovative approaches with a focus on TPLA thought a literature review.ResultsThe literature review highlights that at present there are few studies related to the economic implications of surgical therapies for LUTS. Preliminary results show that the TPLA is a promising technique in terms of clinical and economic benefit for the treatment of obstructive LUTS. Furthermore, TPLA can be performed in an outpatient setting implying an advantage from an economic and also organizational point of view, in particular in a health emergency situation.ConclusionsEconomic literature on minimally invasive techniques and surgical approaches for the treatment of BPH is still lacking. Multicentre and long-term economic studies are needed to assess the estimated disease burden. However, direct and indirect costs associated with TPLA are minimized vs TURP and laser vaporization/enucleation.
The free bilamellar autograft (FBA) procedure: A comprehensive case series of an alternative surgical approach to reconstruction of large eyelid defects
Authors: McDonald Heather M. , McDonald Katherine A. , McDonald Hector 
Published: February 2023

PurposeThe free bilamellar autograft (FBA) procedure involves harvesting a free, full-thickness section of eyelid tissue from one of the patient’s healthy eyelids to reconstruct a large defect of the involved eyelid. No vascular augmentation is employed. The purpose of this study was to determine the structural and cosmetic results of this procedure.MethodsA case series was performed, looking at patients who underwent the FBA procedure for large, full-thickness eyelid defects (&gt;50% eyelid length) between 2009 and 2020 at a single oculoplastic surgical centre. Basal cell carcinomas most frequently met criteria for the procedure. OHSN-REB waived ethics approval. All surgeries were performed by one surgeon. A single operation, with surgical steps reported in detail, was completed with follow-up documentation at ideally 1 day, 1 week, 1 month, 3 months, 6 months, and 1 year. The mean follow-up period was 28 months.ResultsThirty-one patients (17 males, 14 females, mean age 78-years-old) were included in the case series. Comorbidities included diabetes and smoking. Most patients had known basal cell carcinomas removed from the upper or lower eyelid. The mean widths of the recipient and donor sites were 18.8 and 11.5 mm, respectively. All 31 FBA surgeries resulted in structurally functional, cosmetically pleasing, and viable eyelids. Six patients developed minor graft dehiscence, 3 developed an ectropion, and 1 developed mild superficial graft necrosis secondary to frostbite, which fully recovered. Three healing phases were identified.ConclusionThis case series adds to the currently sparse data on the free bilamellar autograft procedure. The surgical technique is clearly articulated and illustrated. The FBA procedure is a simple and efficient alternative to current surgical techniques in the reconstruction of full-thickness upper and lower eyelid defects. The FBA provides functional and cosmetic success, despite the absence of an intact blood supply, with decreased operative time and faster recovery.