bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene
Authors: Wang Kai-Jie , Wang Jue-Xue , Wang Jin-Da , Li Meng , Zhang Jing-Shang , Mao Ying-Yan , Wan Xiu-Hua 
Published: July 2023

Abstract
Background
Congenital cataract is a leading cause of treatable childhood blindness and both clinically and genetically heterogeneous. Among the already characterized phenotypes, coralliform cataract is a rare special form of congenital cataracts. Although previous studies had shown that mutations in the γD-crystallin (CRYGD) can result in congenital coralliform cataracts, no conclusive genotype-phenotype correlation might be drawn. Here we aimed to identify the spectrum and frequency of CRYGD gene mutations in congenital coralliform cataracts of Chinese origin.

Methods
The medical records of 392 Chinese families with congenital cataracts were reviewed between January 2011 and December 2021. The families, clinically documented to have congenital coralliform cataracts, were screened for mutations in candidate CRYGD gene. The genomic DNA of all subjects was extracted from peripheral blood leukocytes. PCR amplified and direct sequencing were performed to identify the disease-causing mutation.

Results
A total of 12 families with coralliform cataracts were recruited in this study in the past 10 years, accounting for 3.1% of the families with congenital cataracts. Of the 12 families, all affected individuals presented with bilateral non-progressive coralliform cataracts since birth, with the best-corrected Snellen visual acuities ranging from 20/200 to 20/25. A recurrent c.70 C > A (p. P24T) mutation in CRYGD was identified in 10 families (83.3%) with congenital cataract, which co-segregated with all affected individuals and was not observed in unaffected family members or ethnically matched normal controls.

Conclusions
The coralliform cataract is characterized by being bilateral, non-progressive and present at birth. A recurrent p.P24T CRYGD mutation occurs independently in 83.3% of the Chinese families with congenital coralliform cataracts and most likely represents a mutational hot spot, which underscore the relations between coralliform cataract and p.P24T CRYGD.
Phenytoin-induced dyskinesia: a case report
Authors: Shah Kashvi C. , Patel Nishi S. , Vasani Paritosh , Khadela Avinash , Chavda Vivek P. , Vora Lalitkumar 
Published: July 2023

Abstract
Background
Dyskinesia is a movement disorder categorized by involuntary movement of muscle. Although dyskinesia can be brought on by taking medications, it can also be a symptom of a variety of diseases. Antiepileptic drug-induced involuntary movements have been well researched. Rare reports have been made for dyskinesia, a type of dystonia caused by phenytoin. The mechanism of its occurrence must be succinctly studied.

Case presentation
A 53-year-old Asian patient taking phenytoin (100 mg twice daily) experienced symptoms of perioral muscle involuntary movement, impaired speech, and generalized tremors and was admitted to the hospital. Brain magnetic resonance imaging showed significant development of encephalomalacia and porencephaly. The serum phenytoin levels were in the toxic range (33 g/ml). These were suggestive of phenytoin-induced dyskinesia. Levetiracetam and clonazepam were initiated, and the patient showed significant improvement in the symptoms.

Conclusion
This case presented a substantial reference value for the differential diagnosis and treatment prognosis of phenytoin-induced dyskinesia. The phenytoin-induced dyskinesia in this patient was successfully reversed with prompt identification and treatment. According to the case study’s findings, such people may benefit from periodic therapeutic drug monitoring.
Characterization of volatile compounds of Perilla crop (Perilla frutescens L.) in South Korea
Authors: Sa Kyu Jin , Jang So Jung , Lee Sookyeong , Park Hyun , Cho Jungeun , Sung Jungsook , Lee Ju Kyong 
Published: July 2023

AbstractThis study was performed to identify and profile the volatile compounds present in three different types of Perilla leaves collected from South Korea. Volatile compounds were analyzed by gas-chromatograph-mass spectrometry. In total, 41 volatile compounds were identified belonging to nine chemical classes (six alcohols, seven aldehydes, two benzodioxoles, two esters, three ethers, four ketones, five monoterpenes, one phenylpropanoid, and eleven sesquiterpenes). In cultivated type of var. frutescens (CF), weedy type of var. frutescens (WF), and weedy type of var. crispa (WC), a total of 34, 39, and 41 volatile compounds, respectively, were identified. The predominant compound in CF and WF was perilla ketone (PK; 87.2% and 64.5%, respectively) and in WC was perilla aldehyde (PA; 26.4%). There were 29 and 27 volatile compounds that showed significant differences of content between WC and CF or WF, respectively. In terms of chemotype based on the volatile compounds, CF and WC were PK type and PA or phenylpropanoid (PP) types, respectively. WF accessions, which were PK and PP types in chemical composition, showed intermediate characteristics in the composition of volatile compounds compared with CF and WC. The results obtained in this study identified successfully the composition and content of volatile compounds in Perilla crop in South Korea. These results will provide useful information for industries and research related to Perilla crop.
Jellyfish detritus supports niche partitioning and metabolic interactions among pelagic marine bacteria
Authors: Tinta Tinkara , Zhao Zihao , Bayer Barbara , Herndl Gerhard J. 
Published: July 2023

Abstract
Background
Jellyfish blooms represent a significant but largely overlooked source of labile organic matter (jelly-OM) in the ocean, characterized by a high protein content. Decaying jellyfish are important carriers for carbon export to the ocean’s interior. To accurately incorporate them into biogeochemical models, the interactions between microbes and jelly-OM have yet to be fully characterized. We conducted jelly-OM enrichment experiments in microcosms to simulate the scenario experienced by the coastal pelagic microbiome after the decay of a jellyfish bloom. We combined metagenomics, endo- and exo-metaproteomic approaches to obtain a mechanistic understanding on the metabolic network operated by the jelly-OM degrading bacterial consortium.

Results
Our analysis revealed that OM released during the decay of jellyfish blooms triggers a rapid shuffling of the taxonomic and functional profile of the pelagic bacterial community, resulting in a significant enrichment of protein/amino acid catabolism-related enzymes in the jelly-OM degrading community dominated by Pseudoalteromonadaceae, Alteromonadaceae and Vibrionaceae, compared to unamended control treatments. In accordance with the proteinaceous character of jelly-OM, Pseudoalteromonadaceae synthesized and excreted enzymes associated with proteolysis, while Alteromonadaceae contributed to extracellular hydrolysis of complex carbohydrates and organophosphorus compounds. In contrast, Vibrionaceae synthesized transporter proteins for peptides, amino acids and carbohydrates, exhibiting a cheater-type lifestyle, i.e. benefiting from public goods released by others. In the late stage of jelly-OM degradation, Rhodobacteraceae and Alteromonadaceae became dominant, growing on jelly-OM left-overs or bacterial debris, potentially contributing to the accumulation of dissolved organic nitrogen compounds and inorganic nutrients, following the decay of jellyfish blooms.

Conclusions
Our findings indicate that specific chemical and metabolic fingerprints associated with decaying jellyfish blooms are substantially different to those previously associated with decaying phytoplankton blooms, potentially altering the functioning and biogeochemistry of marine systems. We show that decaying jellyfish blooms are associated with the enrichment in extracellular collagenolytic bacterial proteases, which could act as virulence factors in human and marine organisms’ disease, with possible implications for marine ecosystem services. Our study also provides novel insights into niche partitioning and metabolic interactions among key jelly-OM degraders operating a complex metabolic network in a temporal cascade of biochemical reactions to degrade pulses of jellyfish-bloom-specific compounds in the water column.
Pattern and frequency of involuntary movements: hospital-based study
Authors: El Tallawy H. N. , Shalash A. S. , Abdelhamed M. A. , Elsabrout R. E. 
Published: July 2023

Abstract
Background
This study aims to detect pattern and frequency and risk factors of movement disorders in Assiut university hospital.

Methods
This is a hospital-based study, all patients with involuntary movements, attending Assiut university hospital; inpatient and outpatient clinics.

Results
Most of cases were males (58.5%), within the age group between 20 and 60 years (59.2%) and illiterate (62.8%). In our study parkinsonism was the most common movement disorder (32.1%), followed by chorea (22.5%), then dystonia (17.8%).

Conclusions
Movement disorders are common cause of disability of patients in our study, with high frequency attending our hospital inpatient department and outpatient clinic, highlighting the need for future specialized movement disorder clinic in our hospital, promoting health care and management of patients. With the need of further studies regarding management of such patients.
Bladder-Sparing Treatment With Radical Dose Radiotherapy Is an Effective Alternative to Radical Cystectomy in Patients With Clinically Node-Positive Nonmetastatic Bladder Cancer
Authors: Swinton Martin , Mariam Neethu Billy Graham , Tan Jean Ling , Murphy Katherine , Elumalai Thiraviyam , Soni Manjusha , Ferrera Alexandra , Richardson Charlotte , Walshaw Richard , Mistry Hitesh , Ramani Vijay , Song Yeepei , Birtle Alison , Henry Ann , Chan Joachim , Hoskin Peter , Choudhury Ananya 
Published: July 2023

PURPOSE Bladder-sparing trimodal therapy (TMT) is an alternative to radical cystectomy (RC) according to international guidelines. However, there are limited data to guide management of nonmetastatic clinically node-positive bladder cancer (cN+ M0 BCa). We performed a multicenter retrospective analysis of survival outcomes in node-positive patients to inform practice. METHODS Data from patients diagnosed with cN+ M0 BCa were collected from participating UK Oncology centers offering both TMT and RC. Overall survival (OS) and progression-free survival (PFS) outcomes were collected with details of treatment and clinical factors. RESULTS A total of 287 patients with cN+ M0 BCa were included in the survival analysis. Median OS across all patients was 1.55 years (95% CI, 1.35 to 1.82 years). Receiving radical treatments was associated with improved OS (hazard ratio [HR], 0.32; 95% CI, 0.23 to 0.44; P < .001) compared with receiving palliative treatment. Radically treated patients (n = 163) received RC (n = 76) or radical dose radiotherapy (RT, n = 87); choice of radical treatment showed no association with OS (HR, 0.94; 95% CI, 0.63 to 1.41; P = .76) or PFS (HR, 0.74; 95% CI, 0.50 to 1.08; P = .12) on multivariable analysis. CONCLUSION Patient cohorts with cN+ M0 BCa had equivalent survival outcomes whether treated with surgery or radical RT. Given the known morbidities of RC—in a patient group with poor survival—this study confirms that bladder-sparing TMT treatment should be a treatment option available to all patients with cN+ M0 BCa.
Factors influencing the effectiveness of nature-based interventions (NBIs) aimed at improving mental health and wellbeing: Protocol of an umbrella review
Authors: Shrestha Topaz , Chi Cheryl Voon Yi , Cassarino Marica , Foley Sarah , Di Blasi Zelda 
Published: July 2023

Several systematic reviews support the use of nature–based interventions (NBIs) as a mechanism of enhancing mental health and wellbeing. However, the available evidence for the effectiveness of these interventions is fragmentary and mixed. The heterogeneity of existing evidence and significant fragmentation of knowledge within the field make it difficult to draw firm conclusions regarding the effectiveness of NBIs. This mixed method umbrella review aims to synthesise evidence on the effectiveness of nature–based interventions through a summative review of existing published systematic reviews and meta-analyses. A systematic search in PsycINFO, PubMed, Greenfile, Web of Science, Embase, Scopus, Academic Search Complete (EBSCO), Environment Complete (EBSCO), Cochrane Library, CINAHL, Health Policy Reference Centre and Google Scholar will be performed from inception to present. The search strategy will aim to find published systematic reviews of nature–based interventions (NBIs) where improving health and wellbeing is an explicit goal. This is a mixed method review, and systematic reviews with both quantitative and qualitative data synthesis will be considered. Two authors will independently perform the literature search, record screening, data extraction, and quality assessment of each included systematic review and meta-analysis. The individual qualitative and quantitative syntheses will be conducted in parallel and combined in an overarching narrative synthesis. The quantitative evidence will be used to assess the strength and direction of the effect of nature–based interventions on mental health and wellbeing outcomes. Evidence drawn from qualitative studies will be analysed and synthesised to understand the various pathways to engagement, involvement process and experiential factors that may mediate experiences. The risk of bias of the systematic reviews will be assessed using a 16-item Assessment of Multiple Systematic Reviews 2 (AMSTAR2) checklist.
Trail registration: This review is registered on PROSPERO (CRD42022329179).
Kidney damage on fertility and pregnancy: A Mendelian randomization
Authors: Ren Jin , Huang Qiuyan , Lie Xiaowei , Tong Xingli , Yao Qi , Zhou Ge 
Published: July 2023

Background
Low fertility and adverse pregnancy outcomes are commonly observed in women with chronic kidney disease (CKD). However, a causal relationship between low fertility and adverse pregnancy outcomes with CKD remains unclear. Besides, whether mild kidney dysfunction can affect fertility and pregnancy still needs exploration. Hence, this study aimed to investigate the causal effect of kidney damage on fertility and pregnancy using Mendelian randomization (MR).

Methods
We first used two-sample MR to examine the effects of kidney damage on fertility and pregnancy. Next, we introduced the Bayesian model averaging MR analysis to detect major causal relationships and render the results robust. The genetic instruments and outcome data were derived from various large genome-wide association studies.

Results
Adverse pregnancy outcomes: Our analyses supported a suggestive causal effect of CKD and estimated glomerular filtration rate (eGFR) rapid on stillbirth, with CKD having an odds ratio (OR) of 1.020 [95% confidence interval (CI) 1.002 to 1.038] and eGFR rapid having an OR of 1.026 (95% CI 1.004–1.048). We also discovered a suggestive causal effect of eGFR on spontaneous abortion, with an OR of 2.63 (95% CI 1.269 to 5.450). Moreover, increased urinary albumin-to-creatinine ratio (UACR) was regarded as a potential risk factor for pre-eclampsia (OR = 1.936; 95% CI 1.065 to 3.517) and gestational hypertension (OR = 1.700; 95% CI 1.002 to 2.886). Fertility assessment: The results indicated that eGFR and UACR had a suggestive causal relationship with the anti-Müllerian hormone level (eGFR beta: 1.004; UACR beta: 0.405).

Conclusions
Our study used MR to demonstrate a suggestive causal relationship between kidney damage and fertility and pregnancy. We reported that mild kidney dysfunction might be a risk factor for reduced fertility and adverse pregnancy outcomes. Dynamic renal detection may help preserve fertility and reduce the risk of pregnancy loss.
Evaluating the impact of injury prevention interventions in child and adolescent sports using the RE-AIM framework and CERT: A systematic review
Authors: Hughes Thomas , O’Hara John , Burton Alan , London Nick , Emmonds Stacey 
Published: July 2023

BackgroundParticipation in sport is a popular pastime for children and adolescents that improves their physical health, mental health and motor skills. Musculoskeletal injuries are a relatively common downside of sports participation and can have negative long-term consequences. Injury prevention programmes have demonstrated effectiveness in child and adolescent sports, provided compliance is adequate. However, little is known about the factors which relate to their impact on the wider community and whether the prevention programmes have been adopted and maintained in the long-term. The objective of this review was to assess the current literature on exercise-based injury prevention interventions in child and adolescent sports (aged under 19 years) against the‘Reach’,‘Effectiveness’,‘Adoption’,‘Implementation’,‘Maintenance’(RE-AIM) framework and Consensus of Exercise Reporting Template (CERT), to ascertain level of reporting for the components which relate to external validity.MethodsSeven electronic databases; PubMed, Medline, SPORTDiscus, PsycINFO, CINAHL, Scopus and The Cochrane Library, were searched from date of inception to July 2022 using the themes of: ‘Child and Adolescent’,‘Sport’,‘Injury’ and ‘Prevention’. Eligibility criteria included: Experimental trial design, exercise-based intervention programmes, primary outcome of injury incidence and participants aged under 19 years. Two reviewers assessed each trial independently against the RE-AIM model dimension items checklist (RE-AIM MDIC) and Consensus on Exercise Reporting Template (CERT) before reaching a consensus on reporting.ResultsForty-five unique trials met the eligibility criteria. Mean reporting level for all studies across the whole RE-AIM MDIC was 31% (SD ± 16.2%, Range 7–77%). The domain of‘effectiveness’was the most comprehensively reported (60%), followed by‘implementation’(48%),‘reach’(38%),‘adoption’(26%) and‘maintenance’(7%). The mean reporting score for the CERT was 50% (SD ± 20.8, range 0–81%).ConclusionPublished data on injury prevention in child and adolescent sports is highly focussed on the effectiveness of the intervention, with little consideration given to how it will be adopted and maintained in the long-term. This has led to considerable gaps in knowledge regarding optimal programme implementation, with a lack of data on adoption and maintenance contributing to the gap between research and practice. Future research needs to place greater focus on external validity and consider incorporating the study of implementation and feasibility as part of effectiveness trial design. This approach should provide the data that will help narrow the considerable gap between science and practice.Trial registrationPROSPERO Registration numberCRD42021272847.
Prevalence of Osteopathy In Chronic Pancreatitis: A Systematic Review and Meta-Analysis
Authors: Ramai Daryl , Facciorusso Antonio , Maida Marcello , Capurso Gabriele , Chandan Saurabh , Spadaccini Marco , Rossi Roberta Elisa , Hassan Cesare , Repici Alessandro , Duggan Sinead , Conwell Darwin L. , Hart Phil A. 
Published: July 2023

ABSTRACT

Introduction
& Aims: Individuals with chronic pancreatitis are at increased risk for nutritional complications during their clinical course. We appraised the literature to provide updated estimates of the prevalence and predictors of osteoporosis, osteopenia, and osteopathy in chronic pancreatitis using a systematic review and meta-analysis.

Methods:
Search strategies were developed for major databases from inception through October 2021. Outcomes of interest included rates of osteopenia and osteoporosis based on DXA scan as well as risk factors. A random effects model was used for analysis and results were expressed as pooled cumulative rates along with 95% confidence interval (CI).

Results:
From an initial total of 1704 identified articles, we ultimately selected 17 studies which involved 1,659 subjects (n=1067 men) with chronic pancreatitis. The pooled rate of osteopathy was 58% (95% Confidence Interval (CI): 49% - 67%; P <0.001; I2 = 91.8%). The pooled rate of osteoporosis was 18% (95% CI: 12% - 23%; P <0.001; I2 = 86.3%), while the pooled rates of osteopenia was 39% (95% CI: 31% - 48%; P <0.001; I2 = 91.53%). In the systematic review, factors associated with decreased bone mineral density included smoking, alcohol consumption, older age, female sex, low BMI, and decreased vitamins D and K and fecal elastase levels.

Conclusion:
Patients with chronic pancreatitis have high rates of osteopathy when assessed with DXA imaging. Additional studies with longitudinal follow-up are needed to understand the observed heterogeneity, the cumulative burden of disease, and rate of bone loss in CP.
Pattern discovery of long non‐coding RNAs associated with the herbal treatments in breast and prostate cancers
Authors: Esfahani Elham Dalalbashi , Ebrahimie Esmaeil , Niazi Ali , Dehcheshmeh Manijeh Mohammadi 
Published: July 2023

Functionally characterized lncRNAs play critical roles in cancer progression but the potential relationship between lncRNAs and herbal medicine is yet to be known. To identify this association by RNA‐seq data for breast and prostate cancer, a co‐expression network in response to herbal medicines was performed. GO terms and pathway analyses on differential co‐expressed mRNAs revealed that lncRNAs were widely co‐expressed with metabolic process genes. On the other hand, various machine learning‐based prediction systems on the differential co‐expressed lncRNAs were implemented. Results show that the Deep Learning model could accurately forecast cancer‐related lncRNAs.BackgroundAccumulating evidence shows that long non‐coding RNAs (lncRNAs) play critical roles in cancer progression. The possible association between lncRNAs and herbal medicine is yet to be known. This study aims to identify medicinal herbs associated with lncRNAs by RNA‐seq data for breast and prostate cancer.MethodsTo develop the optimal approach for identifying cancer‐related lncRNAs, we implemented two steps: (1) applying protein–protein interaction (PPI), Gene Ontology (GO), and pathway analyses, and (2) applying attribute weighting and finding the efficient classification model of the machine learning approach.ResultsIn the first step, GO terms and pathway analyses on differential co‐expressed mRNAs revealed that lncRNAs were widely co‐expressed with metabolic process genes. We identified two hub lncRNA‐mRNA networks that implicate lncRNAs associated with breast and prostate cancer. In the second step, we implemented various machine learning‐based prediction systems (Decision Tree, Random Forest, Deep Learning, and Gradient‐Boosted Tree) on the non‐transformed and Z‐standardized differential co‐expressed lncRNAs. Based on five‐fold cross‐validation, we obtained high accuracy (91.11%), high sensitivity (88.33%), and high specificity (93.33%) in Deep Learning which reinforces the biomarker power of identified lncRNAs in this study. As data originally came from different cell lines at different durations of herbal treatment intervention, we applied seven attribute weighting algorithms to check the effects of variables on identifying lncRNAs. Attribute weighting results showed that the cell line and time had little or no effect on the selected lncRNAs list. Besides, we identified one known lncRNAs, downregulated RNA in cancer (DRAIC), as an essential feature.ConclusionsThis study will provide further insights to investigate the potential therapeutic and prognostic targets for prostate cancer (PC) and breast cancer (BC) in common.