bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long term clinical outcomes and genotype-phenotype correlation in Familial Exudative Vitreoretinopathy in a tertiary referral center
Authors: Tsai Andrew S.H. , Kang Eugene Y.C. , Wang Nan-Kai , Lee Hane , Seo Go Hun , Khang Rin , Wu Wei-Chi 
Published: June 2023

Abstract

Purpose:
To evaluate clinical outcomes and assess genotype phenotype correlations Familial exudative vitreoretinopathy (FEVR) patients

Methods:
Clinical charts of 40 FEVR subjects were reviewed. FEVR was staged per Pendergast and Trese, and retinal dragging and folds further classified per Yaguchi et al. We performed whole exome sequencing and compared clinical characteristics between genetic positive and negative groups.

Results:
Mean duration of follow up was 5.4 years (range 0.33, 15) for genetic positive and 6.9 (range 1,20) for genetic negative subjects. Mean age at diagnosis was 5.6 years (0.25,27) for genetic positive and 6.0 (0,32) for genetic negative subjects. Genetic positive subjects reported 100% full term births and genetic negative subjects reported 45% full term births (p=0.0012). There were more subjects with retinal folds with all major vessels affected (Yaguchi’s Group 4) in genetic positive compared to genetic negative subjects. (21.4% vs 2.6% p=0.045). TSPAN12 was the most common (57.1%) genetic mutation in our population of which 50% exhibited asymmetric presentation.

Conclusion:
Subjects who test positive for a typical FEVR gene mutation reported more term births and had more severe disease by Yaguchi’s classification. TSPAN12 was the most common genetic mutation in our population and had highly asymmetrical disease.
Ten-year visual outcome and change in chorioretinal atrophy after intravitreal ranibizumab for macular neovascularization in pathologic myopia
Authors: Sakata Ryo , Miyata Manabu , Ooto Sotaro , Tamura Hiroshi , Ueda-Arakawa Naoko , Muraoka Yuki , Miyake Masahiro , Hata Masayuki , Takahashi Ayako , Kido Ai , Numa Shogo , Mori Yuki , Tsuda Kanae , Uji Akihito , Oishi Akio , Tsujikawa Akitaka 
Published: June 2023

ABSTRACT

Purpose:
To investigate the 10-year visual outcome and chorioretinal atrophy after a single intravitreal ranibizumab injection (IVR) followed by a pro re nata (PRN) regimen for myopic macular neovascularization (mMNV) in pathologic myopia, and to identify the factors associated with 10-year best-corrected visual acuity (BCVA).

Methods:
This retrospective observational study evaluated 26 consecutive treatment-naïve eyes (26 patients) with mMNV in pathologic myopia who underwent a single IVR followed by a PRN regimen of IVR and/or intravitreal aflibercept injection and observed over 10 years. We assessed changes in BCVA and morphological parameters, including the META-PM Study category as a chorioretinal atrophy index.

Results:
The logarithm of the minimum angle of resolution BCVA changed from 0.36 (Snellen, 20/45) ± 0.39 to 0.39 (20/49) ± 0.36 over 10 years of observation. Compared to baseline, 1-year BCVA improved (P = 0.002), whereas 2–10-year BCVA was not significantly different. Total injection frequency was 3.8 ± 2.6. In none of the eyes, 10-year BCVA was 20/200 or less. Ten-year BCVA correlated with baseline BCVA (P = 0.01, r = 0.47). The META-PM Study category progressed in 60% of eyes. There were no drug-induced complications.

Conclusions:
BCVA in eyes with mMNV in pathologic myopia was maintained for 10 years after a single IVR followed by a PRN regimen without drug-induced complications. The META-PM Study category progressed in 60% of eyes, especially those with older baseline age. Early diagnosis and treatment of mMNV are essential to maintain good long-term BCVA.
Augmented reality-assisted navigation system contributes to better intraoperative and short-time outcomes of laparoscopic pancreaticoduodenectomy: a retrospective cohort study
Authors: Wu Xiwen , Wang Dehui , Xiang Nan , Pan Mingxin , Jia Fucang , Yang Jian , Fang Chihua 
Published: June 2023

Background:
Augmented reality-assisted navigation system (AR-ANS) are currently good techniques for hepatectomy, however its application and efficacy for laparoscopic pancreatoduodenectomy have not been reported. This study sought to focus on and evaluate the advantage of laparoscopic pancreatoduodenectomy guided by the AR-ANS in intraoperative and short-time outcomes.

Methods:
Eighty-two patients who underwent laparoscopic pancreatoduodenectomy from January 2018 to May 2022 were enrolled and divided into the AR and non-AR groups. Clinical base-line features, operation time, intraoperative blood loss, blood transfusion rate, perioperative complications and mortality were analyzed.

Results:
Augmented reality-guided laparoscopic pancreaticoduodenectomy was performed in the AR group (n=41), whereas laparoscopic pancreatoduodenectomy was carried out routinely in the non-AR group (n=41). There was no significant difference in baseline data between the two groups (P>0.05); Although the operation time of the AR group was longer than that of the non-AR group (420.15±94.38 vs. 348.98±76.15, P<0.001), the AR group had a less intraoperative blood loss (219.51±167.03 vs. 312.20±195.51, P=0.023), lower blood transfusion rate(24.4% vs. 65.9%, P<0.001), lower occurrence rates of postoperative pancreatic fistula(12.2% vs. 46.3%, P=0.002) and bile leakage(0% vs. 14.6%, P=0.026), and shorter postoperative hospital stay (11.29±2.78 vs. 20.04±11.22, P<0.001) compared with the non-AR group.

Conclusion:
Augmented reality-guided laparoscopic pancreatoduodenectomy has significant advantages in identifying important vascular structures, minimizing intraoperative damage, and reducing postoperative complications, suggesting that it is a safe, feasible method with a bright future in the clinical setting.
Nutritional strategies during gastrointestinal dysfunction
Authors: van Gassel Rob J.J. , Bels Julia L.M. , van de Poll Marcel C.G. 
Published: June 2023

Purpose of reviewGastrointestinal (GI) dysfunction is common among critically ill patients and is associated with poor outcomes. In particular, nutrient delivery can be impaired in patients with GI dysfunction and pose a significant challenge to clinicians in daily clinical practice. This review aims to summarize the impact of GI dysfunction on nutrition therapy during critical illness and provide an update on recent advances in nutritional strategies during gastrointestinal dysfunction.Recent findingsAlthough prognostic gastrointestinal dysfunction scoring systems exist, a lack of clear, uniform definitions of GI dysfunction limits diagnosis and subsequent adequate treatment. Recent studies have further investigated separate components of GI dysfunction in ICU patients, including the role of altered GI motility, nutrient digestion and absorption and the metabolic consequences of gut dysfunction. Various strategies to improve nutrient delivery are discussed. However, the evidence supporting their routine use is sometimes lacking.SummaryGI dysfunction frequently occurs during critical illness and negatively affects nutrition therapy. Strategies to improve nutrient delivery during GI dysfunction are available, though more research into the diagnosis and pathophysiology of GI dysfunction will likely further improve patient outcomes.
The resurgence of methenamine hippurate in the prevention of recurrent UTIs in women- a systematic review
Authors: Kale Saurabh , Somani Bhaskar K. 
Published: June 2023

Purpose of reviewRecurrent urinary tract infections (rUTIs) in women are prevalent and difficult to manage. The rise of antimicrobial resistance makes it prudent to re-investigate the role of nonantimicrobial agents in the prevention of RUTIs. We wanted to evaluate randomised controlled trials (RCTs) that employed methenamine hippurate as a therapy or prophylactic in adult women with rUTIs.Recent findingsRelevant databases were searched for RCTs using Cochrane methodology and reporting items for systematic reviews and meta-analyses (PRISMA) checklist, comparing the efficacy of methenamine hippurate to either an antibiotic or a placebo for the prophylaxis of rUTI in women.Six trials involving 322 patients taking methenamine and 419 patients receiving antibiotics in total were evaluated. The duration of the trials ranged from 12–24 months. Studies reported that methenamine was effective in extending the mean period between symptomatic episodes of urinary tract infections (UTIs), keeping the patient symptom- and infection-free, and reducing the number of UTI episodes. The newer studies reported that methenamine reduced the incidence rates of recurrent UTIs and was not inferior to the antibiotic in this regard.SummaryThe outcomes of methenamine hippurate were found to be at par with the antibiotic prophylaxis. It might serve as a suitable alternative nonantibiotic prophylaxis for females with rUTIs.
Selenomonas caprae sp. nov., an obligately anaerobic and volatile fatty acid producing bacterium from ruminal fluid of domestic goat (Capra hircus L.)
Authors: Poothong Saranporn , Tanasupawat Somboon , Chanpongsang Somchai , Phongsopitanun Wongsakorn , Nuengjamnong Chackrit 
Published: June 2023

A novel Gram-stain-negative, motile, obligately anaerobic bacterium strain mPRGC8T was isolated from the ruminal fluid of a domestic goat (Capra hircus L.) in Nakhon Pathom province, Thailand. The strain grew at 20–45 °C (optimum, 37 °C), pH 6.0–9.0 (optimum, pH 7.5) and 3 % (w/v) NaCl. It produced acetate, propionate, valerate, caproate and heptanoate from glucose. The 16S rRNA gene sequence analysis indicated that strain mPRGC8T belonged to the genus

Selenomonas

and was closely related to

Selenomonas ruminantium

subsp.

ruminantium

DSM 2150T (98.0 %) and

Selenomonas ruminantium

subsp.

lactilytica

JCM 6582T (97.9 %). The in silico DNA G+C content was 53.0 mol %. Strain mPRGC8T showed average nucleotide identity, digital DNA–DNA hybridization and average animo acid identity values with

Selenomonas montiformis

JCM 34373T,

S. ruminantium

subsp.

lactilytica

JCM 6582T and

S. ruminantium

subsp.

ruminantium

DSM 2150T ranging from 84.9 to 86.0 %, 21.3 to 21.8 % and 73.8 to 76.1 %, respectively. The predominant cellular fatty acids were C16 : 1
ω9c and C18 : 1
ω9c. Phosphatidylethanolamine, three unidentified aminophospholipids, two unidentified ninhydrin positive glycolipids, an unidentified phospholipid and an unidentified lipid were detected as polar lipids. The genomic and phenotypic characteristics of strain mPRGC8T strongly support its classification as representative of new species of the genus

Selenomonas

for which the name Selenomonas caprae sp. nov. is proposed. The type strain is mPRGC8T (=JCM 33725T=KCTC 25178T).
Integration of tissue-specific multi-omics data implicates brain targets for complex neuropsychiatric traits
Authors: Cong Shan , Sang Zhiling , Cao Luolong , Yuan Junbo , Li Yanhong , Liang Hong , Yao Xiaohui 
Published: June 2023

AbstractGenome-wide association studies (GWAS) have uncovered genetic variants susceptible to brain disorders. However, due to the complex pathogenesis of these diseases and heterogeneity of the brain tissues, how and through which the genetic variants confer risk for brain abnormalities and brain disorders remain elusive, especially from a multi-omics perspective and in the context of brain regions. In this study, we integrated brain region-specific transcriptomics, proteomics, and imaging genetics data by systematically applying transcriptome- and proteome-wide association analysis, Mendelian randomization, and Bayesian colocalization methods. At both gene expression and protein abundance levels, this integrative study identified 51 associations linking 42 targets to structural alterations of 10 brain regions. Additionally, we validated the causal effects of 20 identified genes on one or more brain disorders. Our analysis further illuminated the significant enrichment of 12 targets in five main types of brain cells. Overall, this study underscored the utility of a multi-omics and region-specific approach in understanding the pathogenesis of complex brain abnormalities and brain disorders.
WITHDRAWN: Reproductive biology of farmed lumpfishCyclopterus lumpus: Gonadal development and associated profiles of selected endocrine factors
Authors: Mlingi Frank Thomas , Puvanendran Velmurugu , Burgerhout Erik , Guercini Emanuele , Mommens Maren , Hansen Øyvind Johannes , Míguez María Fernández , Presa Pablo , Tveiten Helge , Tomkiewicz Jonna , Kjørsvik Elin 
Published: June 2023

Withdrawal statementThe authors have withdrawn their manuscript owing to major modifications. Therefore, the authors do not wish this work to be cited as reference for the project. If you have any questions, please contact the corresponding author.
Alternative protocols of tissue fixation dramatically reduces the impact of DNA artifacts, unraveling the interpretation of clinical Comprehensive Genomic Profiling
Authors: Berrino Enrico , Bellomo Sara Erika , Chesta Anita , Detillo Paolo , Bragoni Albero , Gagliardi Amedeo , Naccarati Alessio , Cereda Matteo , Witel Gianluca , Sapino Anna , Bussolati Benedetta , Bussolati Gianni , Marchiò Caterina 
Published: June 2023

ABSTRACTFormalin-fixed-paraffin-embedded (FFPE) samples represent the cornerstone of tissue-based analysis in precision medicine. Targeted next-generation sequencing (NGS) panels are routinely used to analyze a limited number of genes to guide treatment decision making for advanced stage patients. The number and complexity of genetic alterations to be investigated are rapidly growing, in several instances a comprehensive genomic profiling (CGP) analysis is required. The poor quality of genetic material extracted from FFPE samples may impact the feasibility/reliability of sequencing data.We sampled 9 colorectal cancers to allow 4 parallel fixations: i) neutral buffered formalin (NBF); ii) acid-deprived formalin fixation (ADF); iii) pre-cooled ADF (coldADF); iv) Glyoxal Acid-Free (GAF). DNA extraction, fragmentation analysis and sequencing by using two large NGS panels (OCAv3, TSO500) followed. We comprehensively analyzed library and sequencing QCs, and the quality of sequencing results.Libraries fromcoldADF samples showed significantly longer reads than the others with both panels. ADF andcoldADF derived libraries showed the lowest level of noise and the highest levels of uniformity with the OCAv3 panel, followed by GAF and NBF samples. The data uniformity was confirmed by TSO500 results, which also highlighted the best performance in terms of total region sequenced for ADF andcoldADF samples. NBF samples had a significantly smaller region sequenced, displayed a significantly lower number of evaluable MS loci and a significant increase in SNVs compared to other protocols. The mutational Signature 1 (aging-, FFPE artifact-related) showed the highest (37%) and the lowest (17%) values in NBF andcoldADF samples, respectively.Most of identified genetic alterations were shared by all samples in each lesion. Five genes showed a different mutational status across samples and/or panels: four discordant results involved NBF samples.In conclusion, acid-deprived fixatives guarantee the highest DNA preservation/sequencing performance, suggesting possible implementation of even more complex molecular profiling on tissue samples.
Emergency Medical Service Response Times and Fatal Fall Injuries Among US Older Adults: Analysis of the 2015 – 2020 National Trauma Data Bank
Authors: Adeyemi Oluwaseun , DiMaggio Charles , Grudzen Corita , Allison Cuthel , Van Allen Kaitlyn , Chodosh Joshua 
Published: June 2023

AbstractBackgroundFalls are the leading injury-related cause of death among older adults but rapid emergency care may reduce fatal complications. To estimate the strength of the association between EMS response times and fatal fall injuries among older adults and measure how this association differs by sex.MethodsFor this retrospective cohort study, we pooled 2015 – 2020 data from the National Trauma Data Bank on patients 65 years and older with fall injuries transferred to U.S. trauma centers (N=705,491). The main outcome was fatal fall injuries. The main predictor was EMS response time, measured as continuous and four-level categorical variables (multiples of the standard nine-minute benchmark). Age, sex, race/ethnicity, and diagnoses of COPD, diabetes, and hypertension were covariables. We performed a mixed-effect multivariable logistic regression, using the trauma center designation level as a random effect variable, and EMS response time and mortality as fixed effect variables. We report the unadjusted and adjusted odds ratio (AOR) plus 95% confidence intervals (CI). We also created an interaction model comprising of response time and sex and reported the predicted probabilities (plus 95% CI) of fatal fall injury by sex and response time categories.ResultsThe case fatality rate of fatal fall injuries among adults 65 years and older was 4.4%. The median (Q1, Q3) EMS response time was 8 minutes (5.0, 13.0), with 60% of patients experiencing the nine-minute benchmark. In the adjusted model, a minute delay in EMS response time was associated with a 1% increased odds of fatal fall injury (AOR: 1.01; 95% CI: 1.01 – 1.01). Older adults who experienced a response time between 18 and 27 minutes, and more than 27 minutes had 1.33 (95% CI: 1.28 - 1.39), and 1.41 (95% CI: 1.35 - 1.47) times the odds of fatal fall injuries. The predicted probabilities of male and female fatal fall injuries were 5.1% (95% CI: 3.51 – 6.75) and 2.4% (95% CI: 1.64 – 3.23), respectively.ConclusionDelayed EMS response time, especially when above twice the standard benchmark, is associated with increased odds of fatal fall injuries among older adults.Key PointsQuestionWhat is the association between EMS response time and fatal fall injuries among US older adults?FindingsIn this retrospective cohort analysis, delay in EMS response time was associated with fatal fall injury in a dose-response pattern among male and female older adults.MeaningStrengthening the EMS infrastructure may improve outcomes from fatal fall injuries among older adults.
Differing structures of galactoglucomannan in eudicots and non-eudicot angiosperms
Authors: Ishida Konan , Ohba Yusuke , Yoshimi Yoshihisa , Wilson Louis F. L. , Echevarría-Poza Alberto , Yu Li , Iwai Hiroaki , Dupree Paul 
Published: June 2023

AbstractThe structures of cell wall mannan hemicelluloses have changed during plant evolution. Recently, a new structure called β-galactoglucomannan (β-GGM) was discovered in eudicot plants. This galactoglucomannan has β-(1,2)-Gal-α-(1,6)-Gal disaccharide branches on some mannosyl residues of the strictly alternating Glc-Man backbone. Studies in Arabidopsis revealed β-GGM is related in structure, biosynthesis and function to xyloglucan. However, when and how plants acquired β-GGM remains elusive. Here, we studied mannan structures in many sister groups of eudicots. All glucomannan structures were distinct from β-GGM. In addition, we searched for candidate mannan β-galactosyltransferases (MBGT) in non-eudicot angiosperms. CandidateAtMBGT1 orthologues from rice and Amborella did not show MBGT activityin vivo. However, theAtMBGT1 orthologue from rice showed MUR3-like xyloglucan galactosyltransferase activity in complementation analysis using Arabidopsis. Further, reverse genetic analysis revealed that the enzyme contributes to proper root growth in rice. Together, gene duplication and diversification of GT47A-VII in eudicot evolution may have been involved in the acquisition of mannan β-galactosyltransferase activity. Our results indicate that β-GGM is likely to be a eudicot-specific mannan.
Contezolid can replace linezolid in a novel combination with bedaquiline and pretomanid in a murine model of tuberculosis
Authors: Almeida Deepak , Li Si-Yang , Lee Jin , Hafkin Barry , Mdluli Khisimuzi , Fotouhi Nader , Nuermberger Eric L. 
Published: June 2023

AbstractContezolid is a new oxazolidinone within vitroandin vivoactivity againstMycobacterium tuberculosiscomparable to that of linezolid. Pre-clinical and clinical safety studies suggest it may be less toxic than linezolid, making contezolid a potential candidate to replace linezolid in treatment of drug-resistant tuberculosis. We evaluated the dose-ranging activity of contezolid, alone and in combination with bedaquiline and pretomanid, and compared it with linezolid at similar doses, in an established BALB/c mouse model of tuberculosis. Contezolid had an MIC of 1 µg/ml, similar to linezolid, and exhibited similar bactericidal activity in mice. Contezolid-resistant mutants selectedin vitrohad 10-fold increases in contezolid MIC and harbored mutations in themce3Rgene. These mutants did not display cross-resistance to linezolid. Our results indicate that contezolid has potential to replace linezolid in regimens containing bedaquiline and pretomanid and likely other regimens.
A marine bacterium elicits the type III secretion-dependent nonhost hypersensitive response in a land plant
Authors: Lee Boyoung , Lee Jeong-Im , Kwon Soon-Kyeong , Ryu Choong-Min , Kim Jihyun F. 
Published: June 2023

ABSTRACTActive plant immune response involving programmed cell death called the hypersensitive response (HR) is elicited by microbial effectors delivered through the type III secretion system (T3SS). The marine bacteriumHahella chejuensiscontains two T3SSs that are similar to those of animal pathogens, but elicited HR-like cell death in the land plantNicotiana benthamiana, which was mediated by SGT1 and suppressed by AvrPto1. Thus, the land plant is capable of inducing the cell death in response to type III-secreted effectors of the marine bacterium it never have encountered, suggesting that plants may have evolved to cope with a potential threat posed by alien effectors.One-sentence summaryA marine bacteriumHahella chejuensisharboring functional type III secretion systems induced nonhost hypersensitive response in a land plantNicotiana benthamiana, which was mediated by SGT1 and suppressed by AvrPto1.
The experiences of Palestinian Arabs with disabilities in Israel
Authors: Amin Hira , Badran Leena , Gur Ayelet , Stein Michael Ashley 
Published: June 2023

PurposeIsrael ratified the United Nations Convention on the Rights of Persons with Disabilities and has subsequently worked towards putting disability-empowering policies and facilities in place. This study explores the experiences of Palestinian Arab citizens of Israel with disabilities in everyday life including education, employment and accessing disability facilities and services.Design/methodology/approachThis study explores the challenges and experiences of Palestinian Arab citizens of Israel through in-depth, semi-structured interviews with a disparate group of Arab men and women with various forms of disabilities.FindingsThis research indicates that Arabs with disabilities are either unable to access them or do so with great difficulty relative to their Jewish counterparts. The findings suggest that this is due to one of two reasons: first is institutional discrimination by Jewish and Arab staff, and second is structural discrimination as facilities and services are specifically designed for the Jewish majority and their areas of residence as opposed to Arab residential areas.Originality/valueGuided by intersectional theory, this article explores how the multiple identities of Arabs with disabilities living in Israel are co-constituted and ordered by different social and political structures which inform their daily lived experiences. This research illustrates that in Jewish politics and institutions, Arabs with disabilities in Israel are “otherised” by being flatly identified as Palestinians; yet, within their Arab communities, they are “otherised” by being reduced solely to their disability. This article examines how this variation in ordering and reduction can lead to specific experiences and forms of discrimination that requires multi-dimensional approaches and ways forward.