bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene
Authors: Chograni M. , Alahdal H. M. , Rejili M. 
Published: May 2023

AbstractCongenital cataract is one of the most genetically heterogeneous ocular conditions with different genes involved in its etiology. Here, we describe the analysis of a new candidate gene of a congenital bilateral cataract associated with polymalformative syndrome, moderate global developmental delay, microcephaly, axial hypotonia, intrauterine growth restriction and facial dysmorphism for two affected siblings. Molecular analysis included exome sequencing and genome wide homozygosity mapping revealed a region of homozygosity shared by the two affected siblings at 10q11.23. The new C10orf71 gene was included in this interval and direct sequencing of this gene revealed an already described homozygous c. 2123T > G mutation (p. L708R) for the two affected subjects. Interestingly, we revealed in contrast a 4-bp deletion on the 3'-splicing acceptor site of intron 3-exon 4, namely defined as IVS3-5delGCAA. The C10Orf71 gene expression analysis using RT-PCR showed an expression pattern in different fetal organs and tissues as well as in leukocytes and confirmed that the IVS3-5delGCAA deletion of the C10orf71 gene is a splicing mutation responsible for the shortening of the C10orf71 protein in the two related patients. The C10orf71 gene has not been described to date as associated to the autosomal recessive phenotype.
How to study a predator that only eats a few meals a year: high-frequency accelerometry to quantify feeding behaviours of rattlesnakes (Crotalus spp.)
Authors: Hanscom Ryan J. , DeSantis Dominic L. , Hill Jessica L. , Marbach Tyler , Sukumaran Jeet , Tipton Anna F. , Thompson Morgan L. , Higham Timothy E. , Clark Rulon W. 
Published: May 2023

AbstractBackgroundMany snakes are low-energy predators that use crypsis to ambush their prey. Most of these species feed very infrequently, are sensitive to the presence of larger vertebrates, such as humans, and spend large portions of their lifetime hidden. This makes direct observation of feeding behaviour challenging, and previous methodologies developed for documenting predation behaviours of free-ranging snakes have critical limitations. Animal-borne accelerometers have been increasingly used by ecologists to quantify activity and moment-to-moment behaviour of free ranging animals, but their application in snakes has been limited to documenting basic behavioural states (e.g., active vs. non-active). High-frequency accelerometry can provide new insight into the behaviour of this important group of predators, and here we propose a new method to quantify key aspects of the feeding behaviour of three species of viperid snakes (Crotalusspp.) and assess the transferability of classification models across those species.ResultsWe used open-source software to create species-specific models that classified locomotion, stillness, predatory striking, and prey swallowing with high precision, accuracy, and recall. In addition, we identified a low cost, reliable, non-invasive attachment method for accelerometry devices to be placed anteriorly on snakes, as is likely necessary for accurately classifying distinct behaviours in these species. However, species-specific models had low transferability in our cross-species comparison.ConclusionsOverall, our study demonstrates the strong potential for using accelerometry to document critical feeding behaviours in snakes that are difficult to observe directly. Furthermore, we provide an ‘end-to-end’ template for identifying important behaviours involved in the foraging ecology of viperids using high-frequency accelerometry. We highlight a method of attachment of accelerometers, a technique to simulate feeding events in captivity, and a model selection procedure using biologically relevant window sizes in an open-access software for analyzing acceleration data (AcceleRater). Although we were unable to obtain a generalized model across species, if more data are incorporated from snakes across different body sizes and different contexts (i.e., moving through natural habitat), general models could potentially be developed that have higher transferability.
A multi-level intervention to reduce the stigma of substance use and criminal involvement: a pilot feasibility trial protocol
Authors: Moore Kelly E. , Johnson Jennifer E. , Luoma Jason B. , Taxman Faye , Pack Robert , Corrigan Patrick , Hart Jim , Slone Judge Duane 
Published: May 2023

AbstractBackgroundStigma associated with substance use and criminal involvement is pervasive and creates a barrier to evidence-based addiction care within the criminal legal system. Research has yet to examine a multi-level stigma intervention which targets the intersection of these stigmas among both criminal legal staff and legally-involved clients.MethodsThis paper presents the protocol for a non-randomized trial of a multi-level stigma intervention called Combatting Stigma to Aid Reentry and Recovery (CSTARR) that involves two interventions: (1) training for criminal legal staff to address public stigma and (2) group-based acceptance and commitment therapy to address self-stigma among legally-involved adults enrolled in substance use treatment. Staff and client participants are engaged with a program called the Tennessee Recovery Oriented Compliance Strategy in 6 East Tennessee counties. This study examines the feasibility, acceptability, and preliminary effectiveness of CSTARR using a type 1 hybrid implementation/effectiveness trial with pre to post follow-up.DiscussionStigma must be addressed in the criminal legal system to facilitate the uptake of evidence-based addiction care. This study is the first to evaluate a stigma intervention designed for the criminal legal setting and results will be used to inform a larger, randomized controlled trial. The rationale for this study, research design and measures, as well as potential implications for the field are described.Trial registrationThis clinical trial is registered at clinicaltrials.gov with the identifier NCT05152342. Registered 11/5/2021 athttps://register.clinicaltrials.gov/prs/app/action/SelectProtocol?sid=S000BIN8&selectaction=Edit&uid=U0005X4C&ts=2&cx=-u3wsbx.
Methodological concerns about “concordance-statistic for benefit” as a measure of discrimination in predicting treatment benefit
Authors: Xia Yuan , Gustafson Paul , Sadatsafavi Mohsen 
Published: May 2023

AbstractPrediction algorithms that quantify the expected benefit of a given treatment conditional on patient characteristics can critically inform medical decisions. Quantifying the performance of treatment benefit prediction algorithms is an active area of research. A recently proposed metric, the concordance statistic for benefit (cfb), evaluates the discriminative ability of a treatment benefit predictor by directly extending the concept of the concordance statistic from a risk model with a binary outcome to a model for treatment benefit. In this work, we scrutinize cfb on multiple fronts. Through numerical examples and theoretical developments, we show that cfb is not a proper scoring rule. We also show that it is sensitive to the unestimable correlation between counterfactual outcomes and to the definition of matched pairs. We argue that measures of statistical dispersion applied to predicted benefits do not suffer from these issues and can be an alternative metric for the discriminatory performance of treatment benefit predictors.
Longitudinal assessment of cardiac parameters through MRI in breast cancer patients treated with anti-HER2 therapy
Authors: Cheng Sainan , Wang Jianwei , Wang Yawen , Qi Linlin , Li Fenglan , Liu Jianing , Chen Jiaqi , Fan Yang , Xie Lizhi 
Published: May 2023

Abstract
Background
We evaluated the early changes in left ventricular (LV) volumetric, functional, and tissue characteristics in human epidermal growth factor receptor 2 (HER2)-positive breast cancer patients treated with trastuzumab and/or pertuzumab at cardiac magnetic resonance imaging (MRI).

Methods
HER2-positive breast cancer patients undergoing planned anti-HER2 therapy and nonanthracycline-based chemotherapy were enrolled and subdivided into dual anti-HER2 (trastuzumab plus pertuzumab) group and trastuzumab group. Cardiac MRI was performed before treatment and three months after starting, covering ventricular volumes, cardiac function, systolic myocardial strain, myocardial oedema, and T1 and T2 relaxation times. Cardiac dysfunction was primarily defined as a > 10% reduction in LV ejection fraction (LVEF) to < 55% and/or a > 15% global longitudinal strain (GLS) change at the follow-up MRI examination.

Results
Twenty-four HER2-positive patients were evaluated (16 in the dual anti-HER2 group, 8 in the trastuzumab group). Six patients developed cardiac dysfunction at follow-up, five of them in the dual anti-HER2 group. One patient developed symptomatic heart failure, and five patients developed asymptomatic cardiac dysfunction. Patients displayed significantly decreased systolic function and increased T1 and T2 relaxation time at follow-up (p ≤ 0.031). Systolic dysfunction remained significant in the dual anti-HER2 group. The decrease in GLS in the trastuzumab group was not significant (p = 0.169). T1 and T2 relaxation times tended to increase, but this was not significant at subgroup analysis.

Conclusions
Cardiac MRI scans showed frequent signs of subclinical cardiotoxicity after short-term anti-HER2 therapy and nonanthracycline-based chemotherapy; the effect was slightly stronger in patients treated with dual therapy.

Key points
• A frequent subclinical cardiotoxicity was detected by cardiac magnetic resonance imaging after short-term anti-human epidermal growth factor receptor 2 (HER2) therapy.
• The change in myocardial strain was more marked in patients treated with dual (trastuzumab plus pertuzumab) than with trastuzumab only anti-HER2 therapy.
• Cardiotoxicity surveillance through MRI is an interesting option particularly in patients treated with dual anti-HER2 therapy.
Biocontrol potential of two deep-sea microorganisms against gray blight disease of tea
Authors: Xu Guangxin , Ying Feng , Wu Huangming , Tang Xixiang 
Published: May 2023

Abstract
Background
Gray blight is among the most destructive diseases that affect tea plants worldwide. In this study, microorganisms from deep-sea sediment samples for those with antagonistic effects were screened against gray blight caused by Pestalotiopsis theae.

Results
Thirty-two and twenty-eight morphologically different deep-sea bacteria and fungi were isolated, respectively. Isolates B5 and A65 clearly inhibited the pathogens in vitro and were prepared as wettable agent powders for evaluation in micro-plot field trials. Foliar application of the 48-h culture of B5 (1 × 108, 2 × 107, 1 × 107 colony-forming units (CFU)/ml) significantly reduced the incidence of gray blight disease. Compared to the untreated control, spraying with B5 inhibited gray blight disease by 78.57%. Isolate B5 was identified as Bacillus subtilis B5 in morphological and 16S rDNA sequence analyses. The foliar application of 7-day cultures of A65 (1 × 108, 2 × 107, 1 × 107 CFU/ml) significantly reduced the incidence of gray blight disease. A65 (108 CFU/ml) inhibited gray blight disease by 75.46% and was identified as Paecilomyces lilacinus A65 in morphologically and internally transcribed spacer sequence analyses.

Conclusions
These candidate microbial pesticides may inhibit gray wilt in tea, replace chemical pesticides’ use without causing environmental pollution, and promote the development of green agriculture.
Prescribing habits of Moroccan psychiatrists toward patients with schizophrenia: about 72 practitioners
Authors: Benallel Khadija , Mansouri Wafaa , Salim Jalal , Benjelloun Roukaya , Kadiri Mohamed 
Published: May 2023

Abstract
Background
The therapeutic decision toward patients with schizophrenia is very different from one psychiatrist to another when faced with potentially similar clinical symptoms. It depends on many factors that are related to the patient’s and the doctor’s profiles, and the drug’s characteristics. To date, no study has been conducted in Morocco on the prescribing habits of psychiatrists toward patients with schizophrenia. The objectives of our survey are to identify the molecules most prescribed by psychiatrists in Morocco for patients with schizophrenia and to determine the most common therapeutic strategies.

Results
Our survey recruited 72 Moroccan psychiatrists. The median age was 36.5 years. 72.2% were women, and 37.5% had between 5 and 10 years of practice. More than two-thirds were practicing in the public sector in big cities. Olanzapine was an antipsychotic prescribed as first-line treatment for a patient with schizophrenia. For the majority, the most frequent combination was atypical antipsychotics with conventional neuroleptics. On the one hand, most psychiatrists reported prescribing neuroleptics long-acting injectable (neuroleptic LAIs). In the other hand, almost half of the participants had never prescribed second-generation antipsychotic long-acting injectables (SGA-LAIs). The high cost (77.8%), lack of availability of the product in certain sectors (33.3%), lack of therapeutic choice (26.4%), and lack of patient profile that could use the drug (23.6%), were among the strong reasons given for not prescribing SGA-LAIs.

Conclusions
The treatment decision for patients with schizophrenia differs from one clinician to the other. It depends on various factors that may be related to the psychiatrist, the patient, and to the drug.
Bioactivity assays and phytochemical analysis upon Achillea filipendulina, focusing on xanthine oxidase inhibitory and antimalarial properties
Authors: Asnaashari Solmaz , Marefat Sahar , Vatankhah Amir Mansour , Bamdad Moghaddam Sedigheh , Delazar Abbas , Hamedeyazdan Sanaz 
Published: May 2023

Abstract
Background
Achillea filipendulina (L.) is an important medicinal plant and an Asian species of the Asteraceae family. A. filipendulina that grows in Central and Southwest Asia. It was chosen for study with the aim of screening biologically active compounds in the essential oil of the aerial parts and the antioxidant, antimalarial and xanthine oxidase inhibitory activities of its extract. Essential oil was extracted by using Clevenger apparatus. Extraction was done by Soxhlet apparatus with solvents of n-hexane, DCM (dichloromethane) and MeOH (methanol), and then, fractionation of extracts was accomplished through various chromatographic techniques including VLC (vacuum liquid chromatography) approach and SPE (solid phase extraction) technique.

Results
Approximately 79% of A. filipendulina essential oil components were recognized by the gas chromatography mass spectrometry (GC–MS), of which monoterpenes were 63.2% the most abundant components, except for terpenes, other compounds such as fatty acids, phenols, aromatic compounds and ketones were identified, as well antimalarial activity test was done by β-hematin formation assay and xanthine oxidase inhibitory activity was accomplished by Ransod kit, then antioxidant activity was performed by DPPH (2,2-diphenyl 1-picrylhydrzyl) free radical scavenging technique. Preliminary phytochemical screening of MeOH and DCM extracts was done by TLC (thin layer chromatography) and total phenol assay. Monoterpenoids were the main component of the aerial part’s essential oil. Among different extracts, MeOH extract had significant antioxidant and xanthine oxidase inhibitory activities with RC50 (mg/mL) = 0.0707 and IC50 = 12.8741 µg/mL, respectively. Moreover DCM extract had significant antimalarial activities with IC50 (mg/mL) = 0.2511. Among the fractions, 40% and 60% Sep-Pak fraction of MeOH extract had stronger xanthine oxidase inhibitory and antioxidant activities. The 40% fraction of MeOH extract showed the strongest antioxidant and xanthine oxidase inhibitory activities, which might be related to the presence of phenolic compounds. The 80% VLC fraction of DCM extract also indicated the strong antimalarial activities.

Conclusion
As this plant revealed a high content of phenols along with high antioxidant, antimalarial and xanthine oxidase inhibitory activities, it could have great medicinal value. Our results suggested the possible use of A. filipendulina in development of highly potent new pure medicinal compounds.
Natural flavonols: actions, mechanisms, and potential therapeutic utility for various diseases
Authors: Mahmud Aar Rafi , Ema Tanzila Ismail , Siddiquee Mohd. Faijanur - Rob , Shahriar Asif , Ahmed Hossain , Mosfeq-Ul-Hasan Md. , Rahman Nova , Islam Rahatul , Uddin Muhammad Ramiz , Mizan Md. Furkanur Rahaman 
Published: May 2023

AbstractBackgroundFlavonols are phytoconstituents of biological and medicinal importance. In addition to functioning as antioxidants, flavonols may play a role in antagonizing diabetes, cancer, cardiovascular disease, and viral and bacterial diseases. Quercetin, myricetin, kaempferol, and fisetin are the major dietary flavonols. Quercetin is a potent scavenger of free radicals, providing protection from free radical damage and oxidation-associated diseases.Main body of the abstractAn extensive literature review of specific databases (e.g., Pubmed, google scholar, science direct) were conducted using the keywords “flavonol,” “quercetin,” “antidiabetic,” “antiviral,” “anticancer,” and “myricetin.” Some studies concluded that quercetin is a promising antioxidant agent while kaempferol could be effective against human gastric cancer. In addition, kaempferol prevents apoptosis of pancreatic beta-cells via boosting the function and survival rate of the beta-cells, leading to increased insulin secretion. Flavonols also show potential as alternatives to conventional antibiotics, restricting viral infection by antagonizing the envelope proteins to block viral entry.Short conclusionThere is substantial scientific evidence that high consumption of flavonols is associated with reduced risk of cancer and coronary diseases, free radical damage alleviation, tumor growth prevention, and insulin secretion improvement, among other diverse health benefits. Nevertheless, more studies are required to determine the appropriate dietary concentration, dose, and type of flavonol for a particular condition to prevent any adverse side effects.
Signaling pathways involved in the biological functions of dendritic cells and their implications for disease treatment
Authors: Cheng Hao , Chen Wenjing , Lin Yubin , Zhang Jianan , Song Xiaoshuang , Zhang Dunfang 
Published: May 2023

AbstractThe ability of dendritic cells (DCs) to initiate and regulate adaptive immune responses is fundamental for maintaining immune homeostasis upon exposure to self or foreign antigens. The immune regulatory function of DCs is strictly controlled by their distribution as well as by cytokines, chemokines, and transcriptional programming. These factors work in conjunction to determine whether DCs exert an immunosuppressive or immune-activating function. Therefore, understanding the molecular signals involved in DC-dependent immunoregulation is crucial in providing insight into the generation of organismal immunity and revealing potential clinical applications of DCs. Considering the many breakthroughs in DC research in recent years, in this review we focused on three basic lines of research directly related to the biological functions of DCs and summarized new immunotherapeutic strategies involving DCs. First, we reviewed recent findings on DC subsets and identified lineage-restricted transcription factors that guide the development of different DC subsets. Second, we discussed the recognition and processing of antigens by DCs through pattern recognition receptors, endogenous/exogenous pathways, and the presentation of antigens through peptide/major histocompatibility complexes. Third, we reviewed how interactions between DCs and T cells coordinate immune homeostasis in vivo via multiple pathways. Finally, we summarized the application of DC-based immunotherapy for autoimmune diseases and tumors and highlighted potential research prospects for immunotherapy that targets DCs. This review provides a useful resource to better understand the immunomodulatory signals involved in different subsets of DCs and the manipulation of these immune signals can facilitate DC-based immunotherapy.
Factors Associated With Practice of Multimodal Care for Cancer Cachexia Among Physicians and Nurses Engaging in Cancer Care
Authors: Amano Koji , Arakawa Sayaka , Hopkinson Jane B. , Baracos Vickie E. , Oyamada Shunsuke , Koshimoto Saori , Mori Naoharu , Ishiki Hiroto , Morita Tatsuya , Takeuchi Takashi , Satomi Eriko 
Published: May 2023

PURPOSE Multimodal care for cancer cachexia is needed. This study examined factors associated with practicing multimodal cachexia care among physicians and nurses engaging in cancer care. METHODS This was a preplanned secondary analysis of a survey investigating clinicians' perspectives on cancer cachexia. Data of physicians and nurses were used. Data on knowledge, skills, and confidence in multimodal cachexia care were obtained. Nine items on practicing multimodal cachexia care were evaluated. Participants were divided into two groups as practicing multimodal cachexia care (above median value for the nine items) or not. Comparisons were made using the Mann-Whitney U test or chi-square test. Multiple regression analysis was performed to identify the factors of practicing the multimodal care. RESULTS Total of 233 physicians and 245 nurses were included. Significant differences were observed between the groups: female sex ( P = .025), palliative care versus oncology specialization ( P < .001), the number of clinical guidelines used ( P < .001), the number of symptoms used ( P = .005), training for cancer cachexia ( P = .008), knowledge on cancer cachexia ( P < .001), and confidence in cancer cachexia management ( P < .001). Palliative care specialization (partial regression coefficient [ B] = 0.85; P < .001), the number of clinical guidelines used ( B = 0.44; P < .001), knowledge on cancer cachexia ( B, 0.94; P < .001), and confidence in cancer cachexia management ( B = 1.59; P < .001) were statistically significant in multiple regression analysis. CONCLUSION Specialization in palliative care, specific knowledge, and confidence were associated with the practice of multimodal care for cancer cachexia.