bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Sonographic Features of Malformation in Fetal Echogenic Bowel and Its Relationship With Chromosome Abnormalities
Authors: Yang Lin , Chen Huie , Li Feifei , Liao Jianmei , Lin Xiangbo 
Published: April 2022

Abstract
The aims of this study were to analyze the sonographic features and clinical prognosis of fetal echogenic bowel (FEB) and to evaluate the value of FEB in the prediction of fetal chromosomal abnormalities. Eight hundred eighty-two fetuses with FEB were selected. The ultrasonographic features and the chromosomal examination were retrospectively analyzed. Among the 882 FEB, 272 (30.8%) cases had malformation. The most common malformation was cardiovascular malformation (21.6%), followed by urinary malformation (9.0%), craniocerebral malformation (6.8%), and gastrointestinal malformations (5.6%). According to other combined ultrasound abnormalities, the FEBs were divided into 4 groups: isolated FEB group (490 cases), ultrasound soft indicators group (130 cases), single malformation group (117 cases), and multiple malformation group (145 cases). A total of 45 cases (5.1%) were detected with chromosomal abnormalities. Compared with isolated FEB group, the rate of chromosomal abnormality in other 3 groups was significantly higher. Among 490 cases of isolated FEB, 114 cases of isolated FEB group with adverse pregnancy outcomes were selected as the experimental group, and 376 cases of FEB group with good prognosis were selected as the control group. There were significant differences of the location, shape, intensity, and progression between the 2 groups. Multivariate logistic regression analysis showed that central location and progression of FEB were independent risk predictors of poor prognosis. The combined malformation rate is high for FEB fetuses. The fetal systems should be carefully examined when FEB is found in prenatal ultrasound.
Factors Associated With a Positive Urine Culture in Women Seeking Urogynecologic Care for Urinary Tract Infection Symptoms
Authors: Meckes Nicole A. , Melnyk Alexandra I. , Guirguis Marina , Zyczynski Halina , Bradley Megan S. 
Published: April 2022

Importance
Urinary tract infections (UTIs) are one of the most common bacterial infections and more frequently affect women than men.

Objectives
Our objective was to determine clinical characteristics associated with a positive urine culture in women seeking treatment for symptoms of UTI.

Study Design
In this prospective cohort study, women seeking treatment for UTI symptoms were administered the Urinary Tract Infection Symptom Assessment questionnaire at baseline and at the time of culture results. Participants were grouped by history of recurrent UTI (rUTI) based on chart review. Our primary outcome was the proportion of “positive” urine cultures (≥103 colony-forming units) compared between rUTI groups. Characteristics were compared and the relative odds of a positive culture were calculated with a logistic regression model.

Results
Analyses included 152 women, 79 (52%) with rUTI and 73 (48%) with no history of rUTI. Overall, 90 (59.2%) had a positive culture. Participants with a positive culture were more likely to report history of rUTI (P = 0.01). There was a 2.45-fold increased adjusted odds of a positive culture in those with a history of rUTI (adjusted odds ratio [aOR], 2.45; 95% confidence interval [CI], 1.34–5.03; P = 0.01) when controlling for confounding variables, including scores on the Urinary Tract Infection Symptom Assessment for frequency (aOR, 0.59; 95% CI, 0.40–0.91), dysuria (aOR, 1.53; 95% CI, 1.10–2.12), and age (aOR, 1.02; 95% CI, 1.01–1.05).

Conclusions
In a cohort of women seeking care for UTI symptoms, older women, those with a history of rUTI and those presenting with dysuria are more likely to have a positive urine culture compared with those with urinary frequency.
Manufacturer and User Facility Device Experience Reporting of Events Related to Transvaginal Mesh: Understanding the Data
Authors: Dallas Kai , Souders Colby P. , Caron Ashley , Clark Khasiah , Obi Ndidiamaka , McClelland Lynn , Chughtai Bilal , Eilber Karyn S. , Anger Jennifer T. 
Published: April 2022

Objective
The aim of this study was to examine potential bias in reports to the Manufacturer and User Facility Device Experience (MAUDE) database involving vaginal mesh by identifying the party submitting the report, the nature of the complaints, and whether the reports were edited.

Methods
All reports submitted to the MAUDE database involving synthetic transvaginal mesh from January 2000 through December 2017 (40,266 safety reports) were identified. A random 2% sample (900) of these reports was reviewed in depth to determine the specific relevant details, including reporter type (patient, manufacturer, lawyer) and details of the complaint/injury.

Results
Of the 40,226 reports to MAUDE identified, 28,473 (70.7%) were sling reports, and 11,793 (29.3%) described mesh products augmenting pelvic organ prolapse repair. Of the 900 reports reviewed in depth, 46%, 41%, 10%, and 2% of entries were reported by the manufacturer, attorney, health care provider, and patients, respectively. In the 4 years after submission, 18.6% of reports were modified at least once.

Conclusions
The MAUDE database allows physicians, manufacturers, and patients to immediately report adverse events experienced due to medical devices. While this database is an important means to identify potential danger to patients, any individual can file a report and, thus, it should not be the sole source of evidence to consider when assessing device safety. Further, the MAUDE database provides no information into the total number of cases performed without complication.
Is Same-Day Discharge Following Minimally Invasive Sacrocolpopexy Safe and Feasible? A National Contemporary Database Analysis
Authors: Raju Rubin , Hanson Kristine T. , Habermann Elizabeth B. , Occhino John A. , Linder Brian J. 
Published: April 2022

Objective
The aim of this study was to investigate trends and outcomes of ambulatory minimally invasive sacrocolpopexy (MISC) using data from a contemporary multicenter nationwide cohort.

Methods
We used the American College of Surgeons National Surgical Quality Improvement Program database to identify women who underwent nonemergent MISC (laparoscopic and robotic) from 2012 to 2018. Exclusion criteria were age <18 or ≥90 years, rectal prolapse, postoperative discharge day ≥3, and concomitant hysterectomy, transvaginal mesh repair, colpocleisis, and/or colorectal surgery. Baseline demographics and 30-day outcomes were compared between patients who underwent same-day discharge (SDD; discharge on postoperative day [POD] 0) and those discharged on POD 1–2 using Kruskal-Wallis, Fisher exact, and Pearson χ
2 tests. A 2-sided Cochran-Armitage trend test assessed SDD over time, and person-years methodology was used to assess readmission rates. Multivariable logistic regression and Cox proportional hazards modeling evaluated associations between SDD and postoperative outcomes. We hypothesized that SDD increased over the study time frame and is not associated with adverse outcomes.

Results
Of 2,928 women, 362 (12.4%) were SDD, and 2,566 (87.6%) were discharged POD 1–2. The proportion of SDD nearly quadrupled over time (5.6% [2012], 20.6% [2018]; P < 0.001). The SDD group was younger (mean age, 61.9 vs 63.6; P = 0.04), with lower proportion of American Society of Anesthesiologists class III or higher (21.8% vs 27.5%; P = 0.02) and hypertension (37.3% vs.46.5%; P < 0.001), shorter total operation time (median, 142 vs 172 minutes; P < 0.001), and fewer concomitant slings (21.5% vs 33.0%; P < 0.001). Outcomes were similar for SDD: 30-day overall complications (3.0% vs 4.4%; P = 0.23), readmissions (1.1% vs 2.0%; P = 0.28), and reoperations (1.1% vs 0.9%; P = 0.55) and persisted with multivariable analysis.

Conclusion
Ambulatory MISC significantly increased during the study period and appears safe and feasible in select patients.
Brexpiprazole-Associated Pisa Syndrome (Pleurothotonus) in a Patient With Dementia
Authors: Nagai Yasuhito , Yamazaki Takahiro , Sugita Tomoyuki , Shibata Nobuto 
Published: April 2022

Objectives
The aims of the study were to report brexpiprazole-induced Pisa syndrome (PS) in a patient with Alzheimer disease and to discuss the pathophysiology and the treatment of PS.

Methods
We report a 71-year-old female patient with Alzheimer disease. After 2 months medication of brexpiprazole, she presented PS. By switching to quetiapine, the symptom was ameliorated; however, transient acute dystonia was occurred.

Conclusions
Drug-induced PS may be associated with dopamine-acetylcholine imbalance. This imbalance causes the dysfunction of the cortex and basal ganglia and the dysfunction of sensory and somatosensory system. Stopping the offending drugs is a choice for the treatment of PS. This is the first report of PS-induced brexpiprazole.
Low Intensity Vibration Protects the Weight Bearing Skeleton and Suppresses Fracture Incidence in Boys with Duchenne Muscular Dystrophy
Authors: Bianchi ML , Vai S , Baranello G , Broggi F , Judex S , Hangartner TN , Rubin CT 
Published: April 2022

AbstractIntroduction/AimsThe ability of low intensity vibration (LIV) to combat skeletal decline in Duchenne Muscular Dystrophy (DMD) was evaluated in a randomized controlled trial.MethodsTwenty DMD boys were enrolled, all ambulant and treated with glucocorticoids (mean age 7.6, height-adjusted Z-scores (HAZ) of hip BMD −2.3). Ten DMD boys were assigned to stand for 10min/d on an Active LIV platform (0.4g @ 30Hz), while 10 stood on a Placebo device. Baseline and 14-month BMC and BMD of spine, hip and total body were measured with DXA, and trabecular bone density (TBD) of tibia with QCT.ResultsAll children tolerated the LIV intervention well, with daily compliance averaging 78%. At 14 months, TBD in the proximal and distal tibia remained unchanged in Placebo (−0.7% & −0.8%), while rising 4.1% and 4.5% in LIV. HAZ for hip BMD and BMC in Placebo declined 22% and 13% respectively, contrasting with no change from baseline (0.9% and 1.4%) in LIV. Fat mass in the leg increased 33% in Placebo, contrasting with 20% in LIV subjects. Across the 14-month study, there were four incident fractures in three placebo patients (30%), with no new fractures identified in LIV subjects.ConclusionsThese data suggest that non-invasive LIV can help protect the skeleton of DMD children against the disease progression, the consequences of diminished load bearing, and the complications of chronic steroid use.
Quantitative longitudinal natural history of eight gangliosidoses – conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis
Authors: Ries Markus , Mendoza Grecia , Arash-Kaps Laila , Amraoui Yasmina , Quack Folker , Hardt Brigitte , Diederich Stefan , Beck Michael , Mengel Eugen 
Published: April 2022

AbstractPurposeGangliosidoses are a group of inherited neurogenetic autosomal recessive lysosomal storage disorders usually presenting with progressive macrocephaly, developmental delay and regression, leading to significant morbidity, and premature death. A quantitative definition of the natural history would support and enable clinical development of specific therapies.MethodsSingle disease registry of eight gangliosidoses (NCT04624789).Cross-sectional analysis of baseline data in N= 26 patients.Primary endpoint: disease severity assessed by the 8-in-1 score.Secondary endpoints: first neurological sign or symptom observed a. by parents and b. by physicians, diagnostic delay, as well as phenotypical characterization.Tertiary endpoints: Neurological outcomes (development, ataxia, dexterity) and disability.ResultsThe 8-in-1 score quantitatively captured severity of disease. Parents recognized initial manifestations (startle reactions) earlier than physicians (motor developmental delay and hypotonia). Median diagnostic delay was 3.16 [IQR 0.69 … 6.25] years. Eight patients presented with late-infantile phenotypes.ConclusionData in this registry raise awareness of these rare and fatal conditions in order to accelerate diagnosis, inform counselling of afflicted families, define quantitative endpoints for clinical trials, and can serve as historical controls for future therapeutic studies. The characterization of a late-infantile phenotype is novel. Longitudinal follow-up is planned.
The Co-production of the Roots Framework: A Reflective Framework for Mapping the Implementation Journey of Trauma-informed Care
Authors: Thirkle Steven Anthony , Kennedy Angela , Sice Petia , Patel Paras 
Published: April 2022

AbstractBackgroundThe trauma-informed care programme at the Tees, Esk and Wear Valleys Foundation NHS Trust identified a need to evaluate the ongoing service-wide trauma-informed care implementation effort. An absence of staff, service user and system-related outcomes specific to trauma-informed care presented barriers to monitoring the adoption of trauma-informed approaches and progress over time across the Tees, Esk and Wear Valleys Foundation NHS Trust. This paper describes the co-production of a new self-assessment tool, Roots, a discussion-based framework that facilitates learning and improvement by reflecting on positive or negative examples of trauma-informed services.MethodsUsing secondary data obtained from an affiliated national trauma summit and instruments found in literature, domains and items were co-produced with the help of trauma-informed care leads, NHS staff and service users. The research design consisted of community-based co-production methods such as surveys, focus groups, and expert consultations.ResultsAdopting trauma-informed care requires enthusiasm and commitment from all members of the organisation. Services must adapt to meet the dynamic needs of staff and service users to ensure they remain trauma-informed; this must be done as a community.ConclusionsFollowing an extensive co-production process, the Roots framework was published open-access and accompanied by a user manual. Roots can provide both qualitative and quantitative insights on trauma-informed care implementation by provoking the sharing of experience across services.
A Novel and Prevalent Pathway in Microbial Selenium Metabolism
Authors: Kayrouz Chase M. , Seyedsayamdost Mohammad R. 
Published: April 2022

AbstractSelenium is an essential micronutrient in diverse organisms. Two routes are known for its insertion into proteins and nucleic acids via selenocysteine and 2-selenouridine, respectively1. However, despite its importance, pathways for specific incorporation of selenium into small molecules have remained elusive. We herein use a genome mining strategy to uncover a widespread three-gene cluster in varied microorganisms that encodes a dedicated pathway for producing selenoneine, the selenium-analog of the multifunctional molecule ergothioneine2,3. We elucidate the reactions of all three proteins and uncover two novel selenium-carbon bond-forming enzymes and the first biosynthetic pathway for production of a selenosugar, an unexpected intermediate on route to the final product. Our findings expand the scope of biological selenium utilization, suggest that the selenometabolome is more diverse than previously thought, and set the stage for the discovery of other selenium-containing natural products.
Multi-omics analyses cannot identify true-positive novel associations from underpowered genome-wide association studies of four brain-related traits
Authors: Baranger David A.A. , Hatoum Alexander S. , Polimanti Renato , Gelernter Joel , Edenberg Howard J. , Bogdan Ryan , Agrawal Arpana 
Published: April 2022

AbstractBackgroundThe integration of multi-omics information (e.g., epigenetics and transcriptomics) can be useful for interpreting findings from genome-wide association studies (GWAS). It has additionally been suggested that multi-omics may aid in novel variant discovery, thus circumventing the need to increase GWAS sample sizes. We tested whether incorporating multi-omics information in earlier and smaller sized GWAS boosts true-positive discovery of genes that were later revealed by larger GWAS of the same/similar traits.MethodsWe applied ten different analytic approaches to integrating multi-omics data from twelve sources (e.g., Genotype-Tissue Expression project) to test whether earlier and smaller GWAS of 4 brain-related traits (i.e., alcohol use disorder/problematic alcohol use [AUD/PAU], major depression [MDD], schizophrenia [SCZ], and intracranial volume [ICV]) could detect genes that were revealed by a later and larger GWAS.ResultsMulti-omics data did not reliably identify novel genes in earlier less powered GWAS (PPV<0.2; 80% false-positive associations). Machine learning predictions marginally increased the number of identified novel genes, correctly identifying 1-8 additional genes, but only for well-powered early GWAS of highly heritable traits (i.e., ICV and SCZ). Multi-omics, particularly positional mapping (i.e., fastBAT, MAGMA, and H-MAGMA), was useful for prioritizing genes within genome-wide significant loci (PPVs = 0.5 – 1.0).ConclusionsAlthough the integration of multi-omics information, particularly when multiple methods agree, helps prioritize GWAS findings and translate them into information about disease biology, it does not substantively increase novel gene discovery in brain-related GWAS. To increase power for discovery of novel genes and loci, increasing sample size is a requirement.
Shell Microelectrode Arrays (MEAs) for brain organoids
Authors: Huang Qi , Tang Bohao , Romero July Carolina , Yang Yuqian , Elsayed Saifeldeen Khalil , Pahapale Gayatri , Lee Tien-Jung , Pantoja Itzy Erin Morales , Han Fang , Berlinicke Cynthia , Xiang Terry , Solazzo Mallory , Hartung Thomas , Qin Zhao , Caffo Brian S. , Smirnova Lena , Gracias David H. 
Published: April 2022

ABSTRACTBrain organoids are important models for mimicking some three-dimensional (3D) cytoarchitectural and functional aspects of the brain. Multielectrode arrays (MEAs) that enable recording and stimulation of activity from electrogenic cells are widely utilized in biomedical engineering. However, conventional MEAs, initially designed for monolayer cultures, offer limited recording contact area restricted to the bottom of the 3D organoids. Inspired by the shape of electroencephalography (EEG) caps, we developed miniaturized chip-integrated MEA caps for organoids. The optically transparent shells are composed of self-folding polymer leaflets with conductive polymer-coated metal electrodes. Tunable folding of the minicaps’ polymer leaflets guided by mechanics simulations enables versatile recording from organoids of different sizes and we validate the feasibility of electrophysiology recording from 400-600 µm sized organoids for up to four weeks and in response to glutamate stimulation. Our studies suggest that 3D shell MEAs offer significant potential for high signal-to-noise and 3D spatiotemporal brain organoid recording.
The Omicron (B.1.1.529) SARS-CoV-2 variant of concern also affects companion animals
Authors: Sánchez-Morales Lidia , Sánchez-Vizcaíno José M. , Pérez-Sancho Marta , Domínguez Lucas , Barroso-Arévalo Sandra 
Published: April 2022

AbstractThe recent emergence of the Omicron variant (B.1.1.529) has brought with it a large increase in the incidence of SARS-CoV-2 disease worldwide. However, there is hardly any data on the incidence of this new variant in companion animals. In this study, we have detected the presence of this new variant in domestic animals such as dogs and cats living with owners with COVID19 in Spain that have been sampled at the most optimal time for the detection of the disease. None of the RT-qPCR positive animals (10.13%) presented any clinical signs and the viral loads detected were very low. In addition, the shedding of viral RNA lasted a short period of time in the positive animals. Infection with the Omicron variant of concern (VOC) was confirmed by a specific RT-qPCR for the detection of this variant and by sequencing. These outcomes suggest a lower virulence of this variant in infected cats and dogs. This study demonstrates the transmission of this new variant from infected humans to domestic animals and highlights the importance of doing active surveillance as well as genomic research to detect the presence of VOCs or mutations associated with animal hosts.
MoDLE: High-performance stochastic modeling of DNA loop extrusion interactions
Authors: Rossini Roberto , Kumar Vipin , Mathelier Anthony , Rognes Torbjørn , Paulsen Jonas 
Published: April 2022

AbstractDNA loop extrusion emerges as a key process establishing genome structure and function. We introduce MoDLE, a computational tool for fast, stochastic modeling of molecular contacts from DNA loop extrusion capable of simulating realistic contact patterns genome wide in a few minutes. MoDLE accurately simulates contact maps in concordance with existing molecular dynamics approaches and with Micro-C data, and does so orders of magnitude faster than existing approaches. MoDLE runs efficiently on machines ranging from laptops to high performance computing clusters, and opens up for exploratory and predictive modeling of 3D genome structure in a wide range of settings.
Form follows function: Variable microtubule architecture in the malaria parasite
Authors: Ferreira Josie L , Pražák Vojtěch , Vasishtan Daven , Siggel Marc , Hentzschel Franziska , Pietsch Emma , Kosinski Jan , Frischknecht Friedrich , Gilberger Tim W. , Grünewald Kay 
Published: April 2022

AbstractThe malaria parasite undergoes a series of extensive morphological changes within its human host and mosquito vector. A scaffold of microtubules beneath a peripheral double membrane establishes and maintains the distinct shapes of all infectious forms, but the underlying structural basis remains unknown. Here we appliedin situelectron cryo-tomography after focused ion beam milling to follow changes in the microtubule cytoskeleton throughout thePlasmodiumlife cycle. This revealed an unexpected level of structural and architectural diversity so far not observed in other organisms. Microtubules in migrating mosquito forms consist of 13 protofilaments reinforced by interrupted luminal helices. Conversely, gametocyte microtubules consist of 13 to 18 protofilaments with doublets, triplets and quadruplets of varying arrangements. We show the microtubule cytoskeleton within the native cellular context, highlighting structurally diverse apical rings which act as microtubule organising centres. This provides a unique view into a relevant human pathogen with an unusual microtubule cytoskeleton.