bluuebunny/crossref_metadata_2025_split huggingface dataset:
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
Authors: Nowicki Michał , Bazan-Socha Stanisława , Błażejewska-Hyżorek Beata , Kłopotowski Mariusz M. , Komar Monika , Kusztal Mariusz A. , Liberek Tomasz , Małyszko Jolanta , Mizia-Stec Katarzyna , Oko-Sarnowska Zofia , Pawlaczyk Krzysztof , Podolec Piotr , Sławek Jarosław ,   on behalf of the Polish Fabry Disease Collaborative Group
Published: January 2024

AbstractFabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase A. FD-affected patients represent a highly variable clinical course with first symptoms already appearing in young age. The disease causes a progressive multiple organ dysfunction affecting mostly the heart, kidneys and nervous system, eventually leading to premature death. Disease-specific management of FD includes enzyme replacement therapy with agalsidase α and β or pharmacological oral chaperone migalastat. Migalastat is a low-molecular-mass iminosugar, that reversibly binds to active site of amenable enzyme variants, stabilizing their molecular structure and improving trafficking to the lysosome. Migalastat was approved in the EU in 2016 and is an effective therapy in the estimated 35–50% of all patients with FD with amenableGLAgene variants. This position statement is the first comprehensive review in Central and Eastern Europe of the current role of migalastat in the treatment of FD. The statement provides an overview of the pharmacology of migalastat and summarizes the current evidence from the clinical trial program regarding the safety and efficacy of the drug and its effects on organs typically involved in FD. The position paper also includes a practical guide for clinicians on the optimal selection of patients with FD who will benefit from migalastat treatment, recommendations on the optimal selection of diagnostic tests and the use of tools to identify patients with amenableGLAmutations. Areas for future migalastat clinical research have also been identified.
Spatial multi-omics: novel tools to study the complexity of cardiovascular diseases
Authors: Kiessling Paul , Kuppe Christoph 
Published: January 2024

AbstractSpatial multi-omic studies have emerged as a promising approach to comprehensively analyze cells in tissues, enabling the joint analysis of multiple data modalities like transcriptome, epigenome, proteome, and metabolome in parallel or even the same tissue section. This review focuses on the recent advancements in spatial multi-omics technologies, including novel data modalities and computational approaches. We discuss the advancements in low-resolution and high-resolution spatial multi-omics methods which can resolve up to 10,000 of individual molecules at subcellular level. By applying and integrating these techniques, researchers have recently gained valuable insights into the molecular circuits and mechanisms which govern cell biology along the cardiovascular disease spectrum. We provide an overview of current data analysis approaches, with a focus on data integration of multi-omic datasets, highlighting strengths and weaknesses of various computational pipelines. These tools play a crucial role in analyzing and interpreting spatial multi-omics datasets, facilitating the discovery of new findings, and enhancing translational cardiovascular research. Despite nontrivial challenges, such as the need for standardization of experimental setups, data analysis, and improved computational tools, the application of spatial multi-omics holds tremendous potential in revolutionizing our understanding of human disease processes and the identification of novel biomarkers and therapeutic targets. Exciting opportunities lie ahead for the spatial multi-omics field and will likely contribute to the advancement of personalized medicine for cardiovascular diseases.
Crowdfunding innovative but risky new ventures: the importance of less ambiguous tone
Authors: Liu Ye , Zhang Ke , Xue Weili , Zhou Ziyu 
Published: January 2024

AbstractCrowdfunding provides a novel and potential way for innovative but risky new ventures to fund their new product development (NPD) projects. To help potential investors evaluate the projects and enhance the credibility of disclosure, founders are struggling with how to phrase the project description. The rapidly growing cleantech crowdfunding projects provide an ideal context to study this issue. We collected information on cleantech crowdfunding projects and matched non-cleantech crowdfunding projects from Kickstarter. The sample period extends from January 2013 to October 2018. Using signaling research as a theoretical lens and a dictionary-based, computerized text mining method, we found that founders of high-quality cleantech crowdfunding projects could create a reliable signal of quality by providing a project description with a less ambiguous tone and thus boost the success of crowdfunding. Moreover, the signaling effectiveness of a less ambiguous tone is more pronounced in cleantech crowdfunding than in matched non-cleantech crowdfunding, suggesting that the marginal benefit of using a less ambiguous tone is larger when the industry information environment is noisier. Further evidence shows that the signaling effectiveness of a less ambiguous tone in cleantech crowdfunding could be strengthened by backers’ endorsements. Our findings imply that tone ambiguity in project descriptions is related to founders’ information-concealing behavior. Potential investors could search ambiguous words in project descriptions and just allocate their limited attention into projects with a low percentage of ambiguous words to avoid information overload. Founders of high-quality projects could boost crowdfunding success by using a less ambiguous tone to describe their projects. The marginal effect is larger when there is greater uncertainty about project prospects.
Impact of flipped classroom on EFL learners’ self- regulated learning and higher-order thinking skills during the Covid19 pandemic
Authors: Samadi Fatemeh , Jafarigohar Manoocher , Saeedi Masood , Ganji Mansoor , Khodabandeh Farzaneh 
Published: January 2024

AbstractThe advent of innovative online tools has ushered in new possibilities for enhancing the quality of language learning. This study delved into the influence of the flipped classroom approach on augmenting the cognitive and meta-cognitive competence of EFL learners. Two distinct participant groups were enlisted for the study's sequential phases, necessitating varying sample sizes to compare the effects of the flipped classroom against traditional instructional modes on the improvement of EFL learners' self-regulated learning strategies and higher-order thinking. Homogeneous groups of language learners were essential for addressing the research inquiries, and participants were selected from two private language institutes in Arak, Iran. Multiple data sources, including a language proficiency test, the Self-Regulation Questionnaire, a flipped classroom attitude questionnaire, and the Higher-Order Thinking Skills Test, were employed to gather the necessary data. The results demonstrated a significant impact of flipped classrooms on learners' utilization of cognitive self-regulated learning strategies, indicating that the flipped classroom approach fosters students' development as self-directed learners. Concerning the influence of the flipped classroom on enhancing EFL learners' higher-order thinking skills, it was deduced that the flipped classroom significantly affected the learners' engagement in evaluating, analyzing, and creating. The implications of these findings underscore the potential of the flipped classroom approach to positively shape EFL learners' self-regulated learning and higher-order thinking skills, advocating for its incorporation into language education practices.
Efficacy of the use of perfluorocarbon as a temporary tamponade agent in severe ocular trauma and/or complex retinopexy: a scoping review
Authors: Pérez Sara Margarita Pérez , Arias Valentina Cárdenas , Ramírez Daniela Jaramillo , Martínez Camilo Eduardo , Tamayo Martínez Nathalie 
Published: January 2024

Abstract
Background
Perfluorocarbon (PFC)possesses unique chemical properties that favor the pigment epithelium’s adhesion and allows the drainage of subretinal fluid through retinal holes present in retinal detachment cases. However, PFC as a temporary tamponade agent has been limited due to its high potential for toxicity.

Main body
We conducted a scoping review regarding the use of PFC in vitreoretinal surgery as a temporary tamponade in subjects with severe ocular trauma or severe retinal detachment who received a therapeutic intervention (vitrectomy via posterior approach with the use of PFC as a temporary tamponade), compared to vitrectomy without the use of PFC as a temporary tamponade. Outcomes of interest were retinal reattachment, visual acuity (VA), postoperative complications and retinal toxicity. The search was performed in Medline, Medline In-Process & Other Non-Indexed Citations, Medline Daily Update, Embase databases. Reference lists from relevant review articles were also included. Two hundred thirty-eight studies were found, with no duplicate entries. In the first selection, 230 articles were eliminated; in the second selection, 6 additional articles were discarded. In total, 8 articles were obtained in this review. Two selected articles corresponded to animal studies and 6 to studies in humans. Regarding study design, 5 were case series, and 1 was a cohort study.

Conclusion
PFC as a short-term tamponade had high rates of reapplication, improved VA, and the most frequent adverse effects were reversible after PFC withdrawal. Nonetheless, the quality of the studies was poor. Studies with more rigorous methodologies are needed to determine visual and structural outcomes and potential risks of PFC use as a temporary tamponade in vitreoretinal surgery.
Autologous internal limiting membrane transplantation achieves anatomic closure and functional improvement in the treatment of large, persistent macular holes
Authors: Camenzind-Zuche Hanna , Janeschitz-Kriegl Lucas , Hasler Pascal W. , Prünte Christian 
Published: January 2024

Abstract
Purpose
To evaluate the clinical outcome of subretinal autologous internal limiting membrane (ILM) transplantation during pars-plana vitrectomy for persistent full-thickness macular hole (FTMH) repair.

Methods
Retrospective, consecutive case series of 13 eyes (13 patients) undergoing small-incision vitrectomy with ILM transplantation and air tamponade for large persistent FTMH after prior unsuccessful vitrectomy with posterior hyaloid detachment and ILM peeling.

Main outcome measurements
For all eyes, high-definition spectral domain optical coherence tomography scans (SD-OCT Spectralis, Heidelberg Engineering GmbH, Germany) of the macula were routinely performed before surgery, 1 and 4 weeks after surgery, and at the final follow-up visit. Additionally, age, gender, axial length, macular hole diameter, biomicroscopic fundus evaluation and best‐corrected visual acuity (BCVA) at baseline, 1 and 4 weeks after surgery, and at the final follow-up visit were analyzed.

Results
Anatomic closure was achieved in all 13 cases (100% success rate). Closure pattern was classified in accordance with to Rossi et al. (Graefe’s Arch Clin Exp Ophthalmol 258(12):2629–2638, 2020). Mean baseline BCVA logMAR was 0.93, mean postoperative BCVA logMAR was 0.66 with a mean postoperative follow-up period of 11.4 months. No re-opening occurred during the observation period.

Conclusions
Placing an autologous ILM-transplant in the subretinal space beneath the margin of the FTMH can support anatomic restauration and functional improvement in large, persistent FTMHs.
Unveiling the potential of Trichoderma harzianum against Heterodera cajani in pigeon pea: impact on cysts, egg and juveniles abundance
Authors: Maurya Amit Kumar , Kumar Harish , John Vinny , Pant Hemlata , Srivastava D. K. , Ahmed Nevin , Baakdah Fadi , Sami Rokayya , Baazeem Alaa , Elhakem Abeer , Alshahrani Mohammad Y. , Qumsani Alaa T. , Qari Sameer H. 
Published: January 2024

Abstract
Background
Pigeon pea is affected by the cyst nematode Heterodera cajani limiting the production. H. cajani can be managed by biological agents such as Trichoderma harzianum. Thus, the determination of this experiment was to estimate native strains of T. harzianum isolated from pigeon pea fields in India on population of cyst, eggs and juveniles of H. cajani. Pots experiment was conducted at the playhouse of Sam Higginbottom University of Science and Technology, Prayagraj (UP), India, during the year of 2018–2020. Earthen pots were filled with sterilized soil @ 10 kg/pot for each replicate of the treatments. Ten days before sowing of the pigeon pea seed, about 5000 spores of T. harzianum were amended in to the soil for proper colonization. Fifteen days after seed germination, 200 cysts/pot were inoculated near the root zone of pigeon pea plant. The pots were irrigated when required. Observations were recorded of cyst population, eggs and second juveniles of H. cajani/500gm of pigeon pea rhizospheric soil at 90 days after sowing.

Results
Among all the isolates of T. harzianum, the treatment (T 7) reduced of cyst population (12), eggs population (234) and juveniles’ population (153) as compared with all other treatments including control at 90 days after sowing of pigeon pea seeds in the year 2018–2019. Similarly, in 2019–2020 reduction in cyst population (11), eggs population (189) and juveniles population (160) was observed at 90 days after sowing in Trichoderma isolates (T 7) as compared to control.

Conclusions
The findings of this study are very relevant since seven isolates of native T. harzianum were promising to suppress the number of cysts in 79.31 and 83.07%, eggs in 22.00 and 38.83% and juveniles’ population in 17.74 and 20.39% of the nematode H. cajani, besides promoting the pigeon pea plant growth.
Management of status epilepticus in pregnancy: a clinician survey
Authors: Swor Dionne , Juneja Pallavi , Constantine Charlotte , Mann Catrin , Rosenow Felix , LaRoche Suzette 
Published: January 2024

Abstract
Background
Status epilepticus in pregnancy (SEP) is rare and life-threatening for both mother and fetus. There are well-established guidelines for the management of women with epilepsy during pregnancy; however, there is little evidence guiding the management of SEP, leading to uncertainty among treating physicians. Therefore, this survey aims to investigate the real-world practices of physicians treating SEP to explore management approaches for improvements in care.

Methods
An anonymous, electronic survey was created and distributed to neurointensivists and neurologists between September and December 2021.

Results
One hundred physicians initiated the survey and 95 completed it in full: 87 (87%, 87/100) identified neurology as their primary specialty, 31 had subspecialty training in neurocritical care, and 48 had subspecialty training in epilepsy and/or clinical neurophysiology. Over half of the survey respondents (67%, 67/100) reported having participated in the management of SEP, with 48.9% (49/98) having done so in the past year. Most survey respondents (73%, 73/100) reported that their management approach to SEP is different than that of non-pregnant patients. Survey respondents were more likely to involve epilepsy consultants when treating SEP (58.5%, 58/99) and the vast majority involved Obstetrics/Maternal Fetal Medicine consultants (90.8%, 89/98). Survey respondents showed a clear preference for levetiracetam (89.7%, 87/97) in the treatment of benzodiazepine refractory status epilepticus followed by lacosamide (61%, 60/98) if an additional second line agent was needed. Valproate and phenobarbital were unlikely to be used. There was less agreement for the management of refractory and super-refractory SEP.

Conclusions
Levetiracetam is the most frequently used anti-seizure medication (ASM) for benzodiazepine-refractory SEP. Survey participants tended to manage SEP differently than in non-pregnant patients including greater involvement of interdisciplinary teams as well as avoidance of ASMs associated with known teratogenicity.
Role of endoscopic ultrasound in gallbladder and biliary system diseases in patients with normal transabdominal ultrasonography
Authors: Hashim Ahmed Morad , Ahmed Ahmed Nabil , Esmail Yasser Mahmoud , Awad Abeer , Elfatah Yasmine Abd 
Published: January 2024

Abstract
Background
The clinical management of patients experiencing recurrent abdominal pain resembling biliary-type, but with negative findings on conventional transabdominal ultrasound (TUS), poses a challenge. In recent years, endoscopic ultrasound (EUS) has emerged as a valuable tool for diagnosing gallbladder diseases. This study aims to assess the role of EUS in the evaluation of gallbladder and biliary system diseases specifically in patients with normal transabdominal ultrasonography results.

Methods
This study was a cross-sectional analytic study that enrolled 150 patients with any complaints related to the gallbladder and biliary system necessitating transabdominal ultrasound and endosonography in the period between February 2021 and December 2021.

Results
The mean age of the studied patients was 46.1 ± 10.3 years; 46.7% were males and 53.3% were females. The main complaint was right abdominal pain in 78.0%; meanwhile, 74.7% had a picture of obstructive jaundice. EUS revealed gallbladder wall thickening in 15 patients (10%), mud and/or small stones inside the gallbladder in 73 patients (48.7%), positive GB mass and/or polyp findings in 30 patients (20%), and biliary lesions such as duct strictures and/or dilatations were detected in 48 patients (32%), while transabdominal ultrasound was normal in all those patients.

Conclusion
Endoscopic ultrasound (EUS) proves to be a valuable diagnostic modality in patients experiencing biliary-type abdominal pain, despite normal transabdominal ultrasonography results. It not only aids in the accurate diagnosis of underlying conditions but also has the potential to impact the management plan for these patients.
Vitamin D profile in autism spectrum disorder children and its relation to the disease severity
Authors: Mansour Amira , Amer Ayman , Sobh Ali , Zaki Maysaa , Abou-Elsaad Tamer 
Published: January 2024

Abstract
Background
The study aimed to investigate whether vitamin D deficiency is a common finding in autism spectrum disorder (ASD) children and whether such deficiency is related to ASD severity and language age or not.

Methods
A cross-sectional observational study was conducted on ASD children aged 2-6 years. The participants were 80 Egyptian children with ASD. All participants were assessed using DSM-V, the Childhood Autism Rating Scale (CARS), language assessment, and assessment of serum vitamin D using ADVIA Centaur Vit D assay.

Results
About 63.8% of ASD children have vitamin D insufficiency, 28.8 % have vitamin D deficiency, and 7.4% have normal serum levels. No correlation was found between serum vitamin D and language age (r = -0.085, P = 0.451), DSM 5 severity levels (r = 0.015,P= 0.894), and CARS scores (r= 0.075, P= 0.511).

Conclusion
ASD children have lower serum vitamin D levels, which may be one of the environmental factors contributing to ASD development in genetically susceptible individuals, and its correction may be helpful as adjuvant therapy for ASD.
Prediction of Benefit From Adjuvant Pertuzumab by 80-Gene Signature in the APHINITY (BIG 4-11) Trial
Authors: Krop Ian E. , Mittempergher Lorenza , Paulson Joseph N. , Andre Fabrice , Bonnefoi Herve , Loi Sherene , Loibl Sibylle , Gelber Richard D. , Caballero Carmela , Bhaskaran Rajith , Dreezen Christa , Menicucci Andrea R. , Bernards Rene , van ’t Veer Laura J. , Piccart Martine J. 
Published: January 2024

PURPOSE At the primary analysis, the APHINITY trial reported a statistically significant but modest benefit of adding pertuzumab to standard adjuvant chemotherapy plus trastuzumab in patients with histologically confirmed human epidermal growth factor receptor 2 (HER2)–positive early-stage breast cancer. This study evaluated whether the 80-gene molecular subtyping signature (80-GS) could identify patients within the APHINITY population who derive the most benefit from dual anti-HER2 therapy. METHODS In a nested case-control study design of 1,023 patients (matched event to control ratio of 3:1), the 80-GS classified breast tumors into functional luminal type, HER2 type, or basal type. Additionally, 80-GS distinguished tumor subtypes that exhibited a single-dominant functional pathway versus tumors with multiple activated pathways. The primary end point was invasive disease-free survival (IDFS). Hazard ratios (HRs) were evaluated by Cox regression. After excluding patients without appropriate consent and those with missing data, 964 patients were included. RESULTS The 80-GS classified 50% (n = 479) of tumors as luminal type, 28% (n = 275) as HER2 type, and 22% (n = 209) as basal type. Most luminal-type tumors (86%) displayed a single-activated pathway, whereas 49% of HER2-type and 42% of basal-type tumors were dual activated. There was no significant difference in IDFS among different conventional 80-GS subtypes (single- and dual-activated subtypes combined). However, basal single-subtype tumors were significantly more likely to have an IDFS event (hazard ratio, 1.69 [95% CI, 1.12 to 2.54]) compared with other subtypes. HER2 single-subtype tumors displayed a trend toward greater beneficial effect on the addition of pertuzumab (hazard ratio, 0.56 [95% CI, 0.27 to 1.16]) compared with all other subtypes. CONCLUSION The 80-GS identified subgroups of histologically confirmed HER2-positive tumors with distinct biological characteristics. Basal single-subtype tumors exhibit an inferior prognosis compared with other subgroups and may be candidates for additional therapeutic strategies. Preliminary results suggest patients with HER2-positive, genomically HER2 single-subtype tumors may particularly benefit from added pertuzumab, which warrants further investigation.