bluuebunny/crossref_metadata_2025_split huggingface dataset:
Bilateral gene therapy in children with autosomal recessive deafness 9: single-arm trial results
Authors: Wang Hui , Chen Yuxin , Lv Jun , Cheng Xiaoting , Cao Qi , Wang Daqi , Zhang Longlong , Zhu Biyun , Shen Min , Xu Chunxin , Xun Mengzhao , Wang Zijing , Tang Honghai , Hu Shaowei , Cui Chong , Jiang Luoying , Yin Yanbo , Guo Luo , Zhou Yi , Han Lei , Gao Ziwen , Zhang Jiajia , Yu Sha , Gao Kaiyu , Wang Jinghan , Chen Bing , Wang Wuqing , Chen Zheng-Yi , Li Huawei , Shu Yilai 
Published: June 2024

AbstractGene therapy is a promising approach for hereditary deafness. We recently showed that unilateral AAV1-hOTOF gene therapy with dual adeno-associated virus (AAV) serotype 1 carrying human OTOF transgene is safe and associated with functional improvements in patients with autosomal recessive deafness 9 (DFNB9). The protocol was subsequently amended and approved to allow bilateral gene therapy administration. Here we report an interim analysis of the single-arm trial investigating the safety and efficacy of binaural therapy in five pediatric patients with DFNB9. The primary endpoint was dose-limiting toxicity at 6 weeks, and the secondary endpoint included safety (adverse events) and efficacy (auditory function and speech perception). No dose-limiting toxicity or serious adverse event occurred. A total of 36 adverse events occurred. The most common adverse events were increased lymphocyte counts (6 out of 36) and increased cholesterol levels (6 out of 36). All patients had bilateral hearing restoration. The average auditory brainstem response threshold in the right (left) ear was >95 dB (>95 dB) in all patients at baseline, and the average auditory brainstem response threshold in the right (left) ear was restored to 58 dB (58 dB) in patient 1, 75 dB (85 dB) in patient 2, 55 dB (50 dB) in patient 3 at 26 weeks, and 75 dB (78 dB) in patient 4 and 63 dB (63 dB) in patient 5 at 13 weeks. The speech perception and the capability of sound source localization were restored in all five patients. These results provide preliminary insights on the safety and efficacy of binaural AAV gene therapy for hereditary deafness. The trial is ongoing with longer follow-up to confirm the safety and efficacy findings. Chinese Clinical Trial Registry registration: ChiCTR2200063181.
A Transcriptomic Dataset of Embryonic Murine Telencephalon
Authors: Ochi Shohei , Manabe Shyu , Kikkawa Takako , Ebrahimiazar Sara , Kimura Ryuichi , Yoshizaki Kaichi , Osumi Noriko 
Published: June 2024

AbstractSex bias is known in the prevalence/pathology of neurodevelopmental disorders. Sex-dependent differences of the certain brain areas are known to emerge perinatally through the exposure to sex hormones, while gene expression patterns in the rodent embryonic brain does not seem to be completely the same between male and female. To investigate potential sex differences in gene expression and cortical organization during the embryonic period in mice, we conducted a comprehensive analysis of gene expression for the telencephalon at embryonic day (E) 11.5 (a peak of neural stem cell expansion) and E14.5 (a peak of neurogenesis) using bulk RNA-seq data. As a result, our data showed the existence of notable sex differences in gene expression patterns not obviously at E11.5, but clearly at E14.5 when neurogenesis has become its peak. These data can be useful for exploring potential contribution of genes exhibiting sex differences to the divergence in brain development. Additionally, our data underscore the significance of studying the embryonic period to gain a deeper understanding of sex differences in brain development.
Error-Reduced Digital Elevation Model of the Qinghai-Tibet Plateau using ICESat-2 and Fusion Model
Authors: Zhang Xingang , Guo Shanchuan , Yuan Bo , Mu Haowei , Xia Zilong , Tang Pengfei , Fang Hong , Wang Zhuo , Du Peijun 
Published: June 2024

AbstractThe Qinghai-Tibet Plateau (QTP) holds significance for investigating Earth’s surface processes. However, due to rugged terrain, forest canopy, and snow accumulation, open-access Digital Elevation Models (DEMs) exhibit considerable noise, resulting in low accuracy and pronounced data inconsistency. Furthermore, the glacier regions within the QTP undergo substantial changes, necessitating updates. This study employs a fusion of open-access DEMs and high-accuracy photons from the Ice, Cloud, and land Elevation Satellite-2 (ICESat-2). Additionally, snow cover and canopy heights are considered, and an ensemble learning fusion model is presented to harness the complementary information in the multi-sensor elevation observations. This innovative approach results in the creation of HQTP30, the most accurate representation of the 2021 QTP terrain. Comparative analysis with high-resolution imagery, UAV-derived DEMs, control points, and ICESat-2 highlights the advantages of HQTP30. Notably, in non-glacier regions, HQTP30 achieved a Mean Absolute Error (MAE) of 0.71 m, while in glacier regions, it reduced the MAE by 4.35 m compared to the state-of-the-art Copernicus DEM (COPDEM), demonstrating its versatile applicability.
Electrical lymph node scanning (ELS) system for real-time intra-operative detection of involved axillary lymph nodes in adjuvant breast cancer patients
Authors: Abbasvandi Fereshteh , Mahdavi Reihane , Bayat Mahdis , Hajighasemi Farzane , Jahanbakhshi Fahimeh , Aghaei Faeze , Sami Nafiseh , Khoundabi Batoul , Ataee Hossein , Yousefpour Narges , Hoseinpour Parisa , Mousavi Kiasary Seyed Mohamad Sadegh , Omrani Hashemi Maryam , Shojaeian Fatemeh , Akbari Atieh , Bagherhosseini Najmeh , Moradi Afshin , Akbari Mohammad Esmaeil , Abdolahad Mohammad 
Published: June 2024

AbstractLymph node (LN) status is an essential prognostic factor in breast cancer (BC) patients, with an important role in the surgical and therapeutic plan. Recently, we have been developed a novel system for real-time intra-operative electrical LN scanning in BC patients. The ELS scores were calibrated by pathological evaluation of the LNs. Herein, we evaluated the efficacy of ELS in a prospective study for non-chemo-treated breast cancer patients. This is a prospective study in which ELS scores are blind for pathologists who declare the clearance or involvement of LNs based on permanent pathology as the gold standard. ELS and frozen-section (FS) pathology results were achieved intra-operatively, and samples were sent for the permanent pathology. The score of ELS did not affect the surgeons’ decision, and the treatment approach was carried out based on FS pathology and pre-surgical data, such as imaging and probable biopsies. Patients were recruited from October 2021 through November 2022, and 381 lymph nodes of 97 patients were included in the study. In this study we recruited 38 patients (39.2%) with sentinel lymph node biopsy (SLNB) and 59 patients (60.8%) with ALND. Of the 381 LNs scored by ELS, 329 sentinel LNs underwent routine pathology, while others (n = 52) underwent both FS and permanent pathology. ELS showed a sensitivity of 91.4% for node-positive patients, decreasing to 84.8% when considering all LNs. Using ROC analysis, ELS diagnosis showed a significant AUC of 0.878 in relation to the permanent pathology gold standard. Comparison of ELS diagnosis for different tumor types and LN sizes demonstrated no significant differences, while increasing LN size correlated with enhanced ELS sensitivity. This study confirmed ELS’s efficacy in real-time lymph node detection among non-chemo-treated breast cancer patients. The use of ELS’s pathological scoring for intra-operative LN diagnosis, especially in the absence of FS pathology or for non-sentinel LN involvement, could improve prognosis and reduce complications by minimizing unnecessary dissection.
Physiological responses of Atlantic cod to climate change indicate that coastal ecotypes may be better adapted to tolerate ocean stressors
Authors: Perry Diana , Tamarit Elena , Sundell Erika , Axelsson Michael , Bergman Sanne , Gräns Albin , Gullström Martin , Sturve Joachim , Wennhage Håkan 
Published: June 2024

AbstractHealthy ecosystems and species have some degree of resilience to changing conditions, however as the frequency and severity of environmental changes increase, resilience may be diminished or lost. In Sweden, one example of a species with reduced resilience is the Atlantic cod (Gadus morhua). This species has been subjected to overfishing, and with additional pressures such as habitat degradation and changing environmental conditions there has been little to no recovery, despite more than a decade of management actions. Given the historical ecological, economical, and cultural significance of cod, it is important to understand how Atlantic cod respond to global climate change to recover and sustainably manage this species in the future. A multi-stressor experiment was conducted to evaluate physiological responses of juvenile cod exposed to warming, ocean acidification, and freshening, changes expected to occur in their nursery habitat. The response to single drivers showed variable effects related to fish biometrics and increased levels of oxidative stress dependent parameters. Importantly, two separate responses were seen within a single treatment for the multi-stressor and freshening groups. These within-treatment differences were correlated to genotype, with the offshore ecotype having a heightened stress response compared to the coastal ecotype, which may be better adapted to tolerate future changes. These results demonstrate that, while Atlantic cod have some tolerance for future changes, ecotypes respond differently, and cumulative effects of multiple stressors may lead to deleterious effects for this important species.
Cognitive profile, neuroimaging and fluid biomarkers in post-acute COVID-19 syndrome
Authors: Guillén Núria , Pérez-Millan Agnès , Falgàs Neus , Lledó-Ibáñez Gema M. , Rami Lorena , Sarto Jordi , Botí Maria A. , Arnaldos-Pérez Cristina , Ruiz-García Raquel , Naranjo Laura , Segura Bàrbara , Balasa Mircea , Sala-Llonch Roser , Lladó Albert , Gray Sarah M. , Johannesen Jason K. , Pantoni Madeline M. , Rutledge Grant A. , Sawant Ruta , Wang Yi , Watson Luke S. , Dalmau Josep , Sanchez-Valle Raquel 
Published: June 2024

AbstractWe aimed to characterize the cognitive profile of post-acute COVID-19 syndrome (PACS) patients with cognitive complaints, exploring the influence of biological and psychological factors. Participants with confirmed SARS-CoV-2 infection and cognitive complaints ≥ 8 weeks post-acute phase were included. A comprehensive neuropsychological battery (NPS) and health questionnaires were administered at inclusion and at 1, 3 and 6 months. Blood samples were collected at each visit, MRI scan at baseline and at 6 months, and, optionally, cerebrospinal fluid. Cognitive features were analyzed in relation to clinical, neuroimaging, and biochemical markers at inclusion and follow-up. Forty-nine participants, with a mean time from symptom onset of 10.4 months, showed attention-executive function (69%) and verbal memory (39%) impairment. Apathy (64%), moderate-severe anxiety (57%), and severe fatigue (35%) were prevalent. Visual memory (8%) correlated with total gray matter (GM) and subcortical GM volume. Neuronal damage and inflammation markers were within normal limits. Over time, cognitive test scores, depression, apathy, anxiety scores, MRI indexes, and fluid biomarkers remained stable, although fewer participants (50% vs. 75.5%; p = 0.012) exhibited abnormal cognitive evaluations at follow-up. Altered attention/executive and verbal memory, common in PACS, persisted in most subjects without association with structural abnormalities, elevated cytokines, or neuronal damage markers.
A multi-institutional machine learning algorithm for prognosticating facial nerve injury following microsurgical resection of vestibular schwannoma
Authors: Heman-Ackah Sabrina M. , Blue Rachel , Quimby Alexandra E. , Abdallah Hussein , Sweeney Elizabeth M. , Chauhan Daksh , Hwa Tiffany , Brant Jason , Ruckenstein Michael J. , Bigelow Douglas C. , Jackson Christina , Zenonos Georgios , Gardner Paul , Briggs Selena E. , Cohen Yale , Lee John Y. K. 
Published: June 2024

AbstractVestibular schwannomas (VS) are the most common tumor of the skull base with available treatment options that carry a risk of iatrogenic injury to the facial nerve, which can significantly impact patients’ quality of life. As facial nerve outcomes remain challenging to prognosticate, we endeavored to utilize machine learning to decipher predictive factors relevant to facial nerve outcomes following microsurgical resection of VS. A database of patient-, tumor- and surgery-specific features was constructed via retrospective chart review of 242 consecutive patients who underwent microsurgical resection of VS over a 7-year study period. This database was then used to train non-linear supervised machine learning classifiers to predict facial nerve preservation, defined as House-Brackmann (HB) I vs. facial nerve injury, defined as HB II–VI, as determined at 6-month outpatient follow-up. A random forest algorithm demonstrated 90.5% accuracy, 90% sensitivity and 90% specificity in facial nerve injury prognostication. A random variable (rv) was generated by randomly sampling a Gaussian distribution and used as a benchmark to compare the predictiveness of other features. This analysis revealed age, body mass index (BMI), case length and the tumor dimension representing tumor growth towards the brainstem as prognosticators of facial nerve injury. When validated via prospective assessment of facial nerve injury risk, this model demonstrated 84% accuracy. Here, we describe the development of a machine learning algorithm to predict the likelihood of facial nerve injury following microsurgical resection of VS. In addition to serving as a clinically applicable tool, this highlights the potential of machine learning to reveal non-linear relationships between variables which may have clinical value in prognostication of outcomes for high-risk surgical procedures.
Association between uric acid and referable diabetic retinopathy in patients with type 2 diabetes
Authors: Rivera-De-la-Parra David , Hernández-Jiménez Sergio , Almeda-Valdés Paloma , Aguilar-Salinas Carlos A. , Graue-Hernández Enrique O. , Pérez-Peralta Liliana , Jiménez-Corona Aida ,   Group of Study CAIPaDi, Rivera-De-la-Parra David , Hernández-Jiménez Sergio , Arcila-Martínez Denise , Del Valle-Ramírez Humberto , Flores-García Arturo , García-Ulloa Ana Cristina , Granados-Arcos Mariana , Hernández-Jasso Arely , Hernández-Juárez Diana , Infanzón-Talango Héctor , Landa-Anell Victoria , Lechuga-Fonseca Claudia , Melgarejo-Hernández Marco Antonio , Palacios-Vargas Angélica , Pérez-Peralta Liliana , Rojas-Torres Francis , Sainos-Muñoz Sandra , Velázquez-Jurado Héctor , Villegas-Narváez Andrea , Urbina-Arronte Luz Elena , Aguilar-Salinas Carlos A. , Gómez-Pérez Francisco J. , Kershenobich-Stalnikowitz David 
Published: June 2024

AbstractPlasmatic uric acid (UA) has been inconsistently associated with diabetic retinopathy (DR). Specific sight-threatening stages of DR have not been studied for their association with UA. Cross-sectional, comparative study. Between 2014 and 2018 we recruited 210 Mexican individuals > 18 years-old with type 2 diabetes (T2D). Clinical, ophthalmological and biochemical assessment was performed with standardized funduscopic examination. Certified readers classified DR stages. The association between DR and UA was assessed by multiple logistic regression analysis, calculating odds ratios (OR) and 95% CI, after adjustment for covariates. Two hundred and ten patients were included, 41 (19.5%) had referable DR. Subjects with referable (severe or worse) DR had longer diabetes duration, 22 (15–28) vs 15 (8–20) years (P < 0.01); higher levels of UA, 6.5 (5.8–8.1) vs 5.4 (4.5–6.6) mg/dL (P < 0.01); higher systolic blood pressure, 130 (120–140) vs 120 (110–130) mmHg (P < 0.01); higher diastolic blood pressure, 78.4 ± 9.7 vs 75.4 ± 9.2 mmHg (P = 0.03); and lower glomerular filtration rate , 54.1 (41.5–69.6) vs 87.3 (66.8–108.3) mL/min/1.73m2 (P < 0.01) compared with those without referable DR. With multiple logistic regression, after adjustment, per each unit of change (mg/dL) in UA the probability of having referable DR increased 45% (OR = 1.45, 95% CI 1.12–1.87, P < 0.01). When UA was evaluated as dichotomous variable, those with levels ≥ 7.8 mg/dL had almost two times (OR = 2.81, 95% CI 1.00–7.9., P = 0.049) the probability of having referable DR compared with those with levels < 7.8 mg/dL. UA may contribute to the microvascular damage in retinal vessels and therefore hyperuricemia could be a therapeutic target to prevent DR progression.
Evaluation of antibacterial, cytotoxicity, and apoptosis activity of novel chromene-sulfonamide hybrids synthesized under solvent-free conditions and 3D-QSAR modeling studies
Authors: Ghomashi Shakila , Ghomashi Reihane , Damavandi Mohammad Sadegh , Fakhar Zeynab , Mousavi Seyedeh Yasaman , Salari-Jazi Azhar , Gharaghani Sajjad , Massah Ahmad Reza 
Published: June 2024

AbstractIn this study, eleven novel chromene sulfonamide hybrids were synthesized by a convenient method in accordance with green chemistry. At first, chromene derivatives (1–9a) were prepared through the multi-component reaction between aryl aldehydes, malononitrile, and 3-aminophenol. Then, synthesized chromenes were reacted with appropriate sulfonyl chlorides by grinding method to give the corresponding chromene sulfonamide hybrids (1–11b). Synthesized hybrids were obtained in good to high yield and characterized by IR, 1HNMR, 13CNMR, CHN and melting point techniques. In addition, the broth microdilution assay was used to determine the minimal inhibitory concentration of newly synthesized chromene-sulfonamide hybrids. The MTT test was used to determine the cytotoxicity and apoptotic activity of the newly synthesized compounds against fibroblast L929 cells. The 3D‑QSAR analysis confirmed the experimental assays, demonstrating that our predictive model is useful for developing new antibacterial inhibitors. Consequently, molecular docking studies were performed to validate the findings of the 3D-QSAR analysis, confirming the potential binding interactions of the synthesized chromene-sulfonamide hybrids with the target enzymes. Molecular docking studies were employed to support the 3D-QSAR predictions, providing insights into the binding interactions between the newly synthesized chromene-sulfonamide hybrids and their target bacterial enzymes, thereby reinforcing the potential efficacy of these compounds as antibacterial agents. Also, some of the experimental outcomes supported or conflicted with the pharmacokinetic prediction (especially about compound carcinogenicity). The performance of ADMET predictor results was assessed. The work presented here proposes a computationally driven strategy for designing and discovering a new sulfonamide scaffold for bacterial inhibition.
Staphylococcus aureus carriage and prevalence of skin and soft tissue infections among people who inject drugs: a longitudinal study
Authors: Jörgensen Jimmy , Dahlman Disa , Alanko Blomé Marianne , Janson Håkan , Riesbeck Kristian , Nilsson Anna C. 
Published: June 2024

AbstractPeople who inject drugs are frequently colonized with Staphylococcus aureus and have an increased risk for skin and soft tissue infections. This longitudinal study aims to describe S. aureus carriage in this group and the risk for infections during a 1-year follow-up. We included 61 participants from the Malmö Needle Exchange Program. Mapping of S. aureus carriage was conducted by screening cultures every third month and S. aureus growth was semi-quantified. Data regarding infections and living conditions were collected from structured interviews. Statistics included univariate analysis with the Fischer’s exact test, univariate logistic regression and multivariate logistic regression. S. aureus carriage was detected in 46–63% of participants, and 75% reported one or more infections during the study period. Self-reported infections were associated with carriage in perineum (OR 5.08 [95% CI 1.45–17.73]), in skin lesions (OR 1.48 [95% CI 1.21–1.81]), and unstable housing situation (OR 12.83 [95% CI 1.56–105.81]). Thus, people who inject drugs are frequent carriers of S. aureus and report a surprisingly high prevalence of skin and soft tissue infections. Homeless people and those with skin carriage seem to be at highest risk. Effective clinical interventions are needed, aiming at preventing infections in this vulnerable group.
Fundamental solution of the time-space bi-fractional diffusion equation with a kinetic source term for anomalous transport
Authors: Allagui Anis , Paradezhenko Georgii , Pervishko Anastasiia , Yudin Dmitry , Benaoum Hachemi 
Published: June 2024

AbstractThe purpose of this paper is to study the fundamental solution of the time-space bi-fractional diffusion equation incorporating an additional kinetic source term in semi-infinite space. The equation is a generalization of the integer-order model $${\partial _{{t}} {\rho (x,t)}} = {\partial ^2_{{x}} {\rho (x,t)}} - { \rho (x,t)}$$

∂
t

ρ
(
x
,
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)

=

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(
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)

-

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)

(also known as the Debye–Falkenhagen equation) by replacing the first-order time derivative with the Caputo fractional derivative of order $$0<\alpha < 1$$

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<
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1

, and the second-order space derivative with the Riesz-Feller fractional derivative of order $$0< \beta <2$$

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<
β
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2

. Using the Laplace-Fourier transforms method, it is shown that the parametric solutions are expressed in terms of the Fox’s H-function that we evaluate for different values of $$\alpha$$
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and $$\beta$$
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.
Minimally destructive hDNA extraction method for retrospective genetics of pinned historical Lepidoptera specimens
Authors: Rayo Enrique , Ulrich Gabriel F. , Zemp Niklaus , Greeff Michael , Schuenemann Verena J. , Widmer Alex , Fischer Martin C. 
Published: June 2024

AbstractThe millions of specimens stored in entomological collections provide a unique opportunity to study historical insect diversity. Current technologies allow to sequence entire genomes of historical specimens and estimate past genetic diversity of present-day endangered species, advancing our understanding of anthropogenic impact on genetic diversity and enabling the implementation of conservation strategies. A limiting challenge is the extraction of historical DNA (hDNA) of adequate quality for sequencing platforms. We tested four hDNA extraction protocols on five body parts of pinned false heath fritillary butterflies, Melitaea diamina, aiming to minimise specimen damage, preserve their scientific value to the collections, and maximise DNA quality and yield for whole-genome re-sequencing. We developed a very effective approach that successfully recovers hDNA appropriate for short-read sequencing from a single leg of pinned specimens using silica-based DNA extraction columns and an extraction buffer that includes SDS, Tris, Proteinase K, EDTA, NaCl, PTB, and DTT. We observed substantial variation in the ratio of nuclear to mitochondrial DNA in extractions from different tissues, indicating that optimal tissue choice depends on project aims and anticipated downstream analyses. We found that sufficient DNA for whole genome re-sequencing can reliably be extracted from a single leg, opening the possibility to monitor changes in genetic diversity maintaining the scientific value of specimens while supporting current and future conservation strategies.