bluuebunny/crossref_metadata_2025_split huggingface dataset:
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
Authors: Xie Zhiying , Sun Chengyue , Liu Yilin , Yu Meng , Zheng Yiming , Meng Lingchao , Wang Gao , Cornejo-Sanchez Diana M , Bharadwaj Thashi , Yan Jin , Zhang Lingxiang , Pineda-Trujillo Nicolas , Zhang Wei , Leal Suzanne M. , Schrauwen Isabelle , Wang Zhaoxia , Yuan Yun 
Published: September 2020

ObjectiveTo investigate the diagnostic value of implementing a stepwise genetic testing strategy (SGTS) in genetically unsolved cases with dystrophinopathies.MethodsAfter routine genetic testing in 872 male patients with highly suspected dystrophinopathies, we identified 715 patients with a pathogenic DMD variant. Of the 157 patients who had no pathogenic DMD variants and underwent a muscle biopsy, 142 patients were confirmed to have other myopathies, and 15 suspected dystrophinopathies remained genetically undiagnosed. These 15 patients underwent a more comprehensive evaluation as part of the SGTS pipeline, which included the stepwise analysis of dystrophin mRNA, short-read whole-gene DMD sequencing, long-read whole-gene DMD sequencing and in silico bioinformatic analyses.ResultsSGTS successfully yielded a molecular diagnosis of dystrophinopathy in 11 of the 15 genetically unsolved cases. We identified 8 intronic and 2 complex structural variants (SVs) leading to aberrant splicing in 10 of 11 patients, of which 9 variants were novel. In one case, a molecular defect was detected on mRNA and protein level only. Aberrant splicing mechanisms included 6 pseudoexon inclusions and 4 alterations of splice sites and splicing regulatory elements. We showed for the first time the exonisation of a MER48 element as a novel pathogenic mechanism in dystrophinopathies.ConclusionOur study highlights the high diagnostic utility of implementing a SGTS pipeline in dystrophinopathies with intronic variants and complex SVs.
Light element ($$Z=1,2$$) production from spontaneous ternary fission of $$^{252}$$Cf
Authors: Röpke G. , Natowitz J. B. , Pais H. 
Published: September 2020

AbstractThe yields of light elements ($$Z=1,2$$Z=1,2) obtained from spontaneous ternary fission of$$^{252}$$252Cf are treated within a nonequilibrium approach, and the contribution of unstable nuclei and excited bound states is taken into account. These light cluster yields may be used to probe dense matter, and to infer in-medium corrections such as Pauli blocking which is determined by the nucleon density. Continuum correlations are calculated from scattering phase shifts using the Beth-Uhlenbeck formula, and the effect of medium modification is estimated. The relevant distribution is reconstructed from the measured yields of isotopes. This describes the state of the nucleon system at scission and cluster formation, using only three Lagrange parameters which are the nonequilibrium counterparts of the temperature and chemical potentials, as defined in thermodynamic equilibrium. We concluded that a simple nuclear statistical equilibrium model neglecting continuum correlations and medium effects is not able to describe the measured distribution of H and He isotopes. Moreover, the freeze-out concept may serve as an important ingredient to the nonequilibrium approach using the relevant statistical operator concept.
Thermal image and phase transitions of charged AdS black holes using shadow analysis
Authors: Belhaj A. , Chakhchi L. , El Moumni H. , Khalloufi J. , Masmar K. 
Published: September 2020

We investigate the relations between the black hole shadow and charged AdS black hole critical behavior in the extended phase space. Using the thermo-shadow formalism built in Ref. 1, we reveal that the shadow radius can be considered as an efficient tool to study thermodynamical black hole systems. Based on such arguments, we build a thermal profile by varying the RN–AdS black hole temperature on the shadow silhouette. Among others, the Van der Waals-like phase transition takes place. This could open a new window on the thermal picture of black holes and the corresponding thermodynamics from the observational point of view.
Food Insecurity Is Associated With Cardiovascular and All‐Cause Mortality Among Adults in the United States
Authors: Sun Yangbo , Liu Buyun , Rong Shuang , Du Yang , Xu Guifeng , Snetselaar Linda G. , Wallace Robert B. , Bao Wei 
Published: September 2020

Background
Food insecurity is a global leading public health challenge that affects not only developing countries but also developed countries, including the United States. About 50 million Americans are food insecure. In this study we examined the associations of the adult food insecurity with all‐cause and cardiovascular disease mortality in a nationally representative sample of US adults.

Methods and Results

We included 27 188 US adults (age ≥40 years of age) who participated in the US National Health and Nutrition Examination Survey from 1999 to 2014. Food insecurity status was assessed using the Food Security Survey Module developed by the US Department of Agriculture. Mortality from all causes and cardovascular disease was ascertained through data linkage to the National Death Index through December 31, 2015. We used multivariable Cox proportional hazards regression with sampling weights to estimate hazard ratios (
HR
s) and 95% CIs of all‐cause and cardiovascular disease mortality, according to food security status. During 205 389 person‐years of the period, 5039 deaths occurred, including 1084 cardiovascular disease deaths. After adjustment for age, sex, race/ethnicity, education, income, and dietary and lifestyle factors, participants with very low food security had higher risk of all‐cause and cardiovascular disease mortality, with multivariable‐adjusted
HR
s of 1.32 (95%
CI
, 1.07–1.62), and 1.53 (95% CI, 1.04–2.26), respectively, compared with those with high food security.

Conclusions
Food insecurity is significantly associated with increased risk of excess death from cardiovascular disease and all causes in US adults.
Histogram Anomaly Time Series: A Compact Graphical Representation of Spatial Time Series Data Sets
Authors: Potter Gerald L , Huffman George J. , Bolvin David T. , Bosilovich Michael G. , Hertz Judy , Carriere Laura E. 
Published: September 2020

ABSTRACTWe introduce a simple method for detecting changes, both transient and persistent, in reanalysis and merged satellite products due to both natural climate variability and changes to the data sources/analyses used as input. This note demonstrates this Histogram Anomaly Time Series (HATS) method using tropical ocean daily precipitation from MERRA-2 and from GPCP One-Degree Daily (1DD) precipitation estimates. Rather than averaging over space or time, we create a time series display of histograms for each increment of data (such as a day or month). Regional masks such as land–ocean can be used to isolate particular domains. While the histograms reveal subtle structures in the time series, we can amplify the signal by computing the histogram’s anomalies from its climatological seasonal cycle. The qualitative analysis provided by this scheme can then form the basis for more quantitative analyses of specific features, both real and analysis induced. As an example, in the tropical oceans the analysis clearly identifies changes in the time series of both reanalysis and observations that may be related to changing inputs.
Variations in the Frequency of Stratospheric Sudden Warmings in CMIP5 and CMIP6 and Possible Causes
Authors: Wu Zheng , Reichler Thomas 
Published: September 2020

AbstractThe climatological frequency of stratospheric sudden warming events (SSWs) is an important dynamical characteristic of the extratropical stratosphere. However, modern climate models have difficulties in simulating this frequency, with many models either considerably under- or overestimating the observational estimates. Past research has found that models with a higher upper lid tend to simulate a higher and more realistic number of SSWs. The present study revisits this issue and investigates causes for biases in the simulated SSW frequency from the CMIP5 and CMIP6 models. It is found that variations in the frequency are closely related to 1) the strength of the polar vortex and 2) the upward-propagating wave activity in the stratosphere. While it is difficult to explain the variations in the polar vortex strength from the available model output, the stratospheric wave activity is influenced by different aspects of the climatological mean state of the atmosphere in the lower stratosphere. We further find that models with a finer vertical resolution in the stratosphere are overall more realistic: vertical resolution is associated with a smaller cold bias above the extratropical tropopause, more upward-propagating wave activity in the lower stratosphere, and a higher frequency of SSWs. We conclude that not only a high model lid but also a fine vertical resolution in the stratosphere is important for simulating the dynamical variability of the stratosphere.
Outcomes of Open Retro-Rectus Hernia Repair With Mesh in Obesity Class III
Authors: Martinez Manuel , Dove James , Blansfield Joseph , Widom Kenneth , Semian John , Alaparthi Mohanbabu , Factor Matthew 
Published: September 2020

Background Abdominal wall hernias continue to be one of the most common general surgery pathologies. Patients with an elevated body mass index (BMI) are routinely counseled about weight loss before elective repair. However, a definitive BMI “cutoff” has not been established. Here, we report our experience with open retro-rectus hernia repair (ORRHR) with mesh in patients with a BMI over 40 kg/m2, and we attempt to determine if a BMI “cutoff” can be established. Methods Data from patients undergoing ORRHR with mesh at Geisinger Medical Center from January 1, 2014, to December 31, 2018, were collected and retrospectively analyzed. Results Cohorts were composed of 2 groups, BMI ≥ 40 kg/m2 (n = 117) and BMI < 40 kg/m2 (n = 90). All patients underwent an elective ORRHR with mesh. Operative time increased significantly as the patient’s BMI increased ( P ≤ .01). Patients in the higher BMI group had a significantly higher rate of surgical site infections (SSIs) (8.55% vs. 1.1%, P = .018). Higher BMI did not translate to a higher recurrence rate. Conclusions Patients undergoing ORRHR with mesh who had a BMI over 40 kg/m2 had an increased risk of SSI and longer operative time, possibly suggesting a potential association other than SSI and BMI. More studies are needed to determine if BMI is indeed correlated with hernia recurrence and if BMI should influence the decision to undergo repair.
Comparison of Intra-Abdominal Infection Risk Between Intracorporeal and Extracorporeal Anastomosis in Laparoscopic Right Hemicolectomy for Colon Cancer: A Single-Center Retrospective Study
Authors: Ishizaki Tetsuo , Katsumata Kenji , Enomoto Masanobu , Mazaki Junichi , Wada Takahiro , Kasahara Kenta , Nagakawa Yuichi , Tsuchida Akihiko 
Published: September 2020

Background No previous study has compared the risk of surgical site infection (SSI) between intracorporeal anastomosis (IA) and extracorporeal anastomosis (EA) related to intra-abdominal infection in laparoscopic right hemicolectomy. Therefore, this study aimed to compare the risk of SSI in IA and EA in this context. Methods From July 2014 to March 2018, 101 consecutive (median age, 73 years; male, 54) patients underwent laparoscopic right hemicolectomy for colon cancer. The IA and EA groups consisted of 51 and 50 cases, respectively. After either IA or EA, lavage was performed with 100 mL of saline in the area surrounding the anastomosis, and a sample was collected for bacterial culture. The product of the virulence score and dose of bacterial contamination score called the risk of SSI score was evaluated in both groups, and short-term outcomes in both groups were analyzed retrospectively. Results No significant difference was found in patient characteristics between the 2 groups. The frequency of organ/space SSI in the IA group was significantly higher than that in the EA group (7.8% vs 0%, P = .04). The risk of SSI score was significantly higher in the IA group than in the EA group (median, 9 vs 1, P < .01). Conclusions Compared with EA, IA in laparoscopic right hemicolectomy increased organ/space SSI rates, signifying intra-abdominal infection. We strongly recommend prevention of intra-abdominal infection when performing an IA.
Emergent General Surgery Operations in Patients With Left Ventricular Assist Devices
Authors: Bauman Zachary M. , Cunningham Robert , Hodson Alex , Shostrom Valerie , Evans Charity H. , Schlitzkus Lisa L. 
Published: September 2020

Background The left ventricle assist device (LVAD) patient population is rapidly expanding. Unique characteristics of these patients complicate the management of noncardiac surgical problems. Emergent general surgery (EGS) intervention is often warranted but remains poorly described. We reviewed EGS consultations in LVAD patients to better understand these patients. Methods During a 12-year period, 301 LVAD patients were reviewed. Demographics, comorbidities, reason for EGS consultation, operative intervention, transplantation, and mortality were analyzed. Wilcoxon, Fisher’s exact, and chi-square tests were used for analysis. Statistical significance was P < .05. Results A total of 139 (46.2%) patients required EGS consultation. EGS consultations were older (63 vs 57 years; P = .002), primarily Caucasian (86%), and male (83%) with average preimplant cardiac index of 1.84. Comorbidities were similar between those with and without EGS consultation. Gastrointestinal (GI) bleeding was the most common reason for consultation (53%), followed by abdominal pain (22%) and bowel ischemia/obstruction (19%). Of EGS consultations, 77% were on warfarin and 60% on aspirin. Procedures were not withheld: 46% required esophagogastroduodenoscopy (EGD) and 30% required colonoscopy. Surgical intervention was performed in 28% of EGS consults—49% emergent (within 24 hours) and 44% urgent (during hospitalization). Mean time to surgery was 48 days after LVAD placement. EGS intervention precluded 7 (18%) patients from heart transplantation and 10 (26%) patients suffered perioperative mortality. Elevated lactic acid was associated with increased mortality. Conclusion EGS consultation is necessary in almost half of all LVAD patients, most commonly for GI bleed. EGD/colonoscopy can be safely used to manage the majority of these consultations; one-third will require surgery. High lactic acid is associated with higher mortality. Additional analysis of this population is required for improving surgical management.
Estimating Trunk Angle Kinematics During Lifting Using a Computationally Efficient Computer Vision Method
Authors: Greene Runyu L. , Lu Ming-Lun , Barim Menekse Salar , Wang Xuan , Hayden Marie , Hu Yu Hen , Radwin Robert G. 
Published: September 2020

Objective A computer vision method was developed for estimating the trunk flexion angle, angular speed, and angular acceleration by extracting simple features from the moving image during lifting. Background Trunk kinematics is an important risk factor for lower back pain, but is often difficult to measure by practitioners for lifting risk assessments. Methods Mannequins representing a wide range of hand locations for different lifting postures were systematically generated using the University of Michigan 3DSSPP software. A bounding box was drawn tightly around each mannequin and regression models estimated trunk angles. The estimates were validated against human posture data for 216 lifts collected using a laboratory-grade motion capture system and synchronized video recordings. Trunk kinematics, based on bounding box dimensions drawn around the subjects in the video recordings of the lifts, were modeled for consecutive video frames. Results The mean absolute difference between predicted and motion capture measured trunk angles was 14.7°, and there was a significant linear relationship between predicted and measured trunk angles ( R2 = .80, p < .001). The training error for the kinematics model was 2.3°. Conclusion Using simple computer vision-extracted features, the bounding box method indirectly estimated trunk angle and associated kinematics, albeit with limited precision. Application This computer vision method may be implemented on handheld devices such as smartphones to facilitate automatic lifting risk assessments in the workplace.
Magnetic resonance assessment of sinusoidal obstruction syndrome after neoadjuvant chemotherapy for colorectal liver metastases is not reproducible
Authors: Staal Femke CR , Beets-Tan Regina GH , Heeres Birthe C , Houwers Janneke , de Boer Myrte , van Dorth Danielle , Lambregts Doenja MJ , Maas Monique 
Published: September 2020

Background Sinusoidal obstruction syndrome (SOS) due to chemotherapy can cause severe hepatotoxicity, leading to impaired outcome in patients with colorectal cancer. A previous study introduced gadoxetic acid-enhanced magnetic resonance imaging (Gd-EOB-MRI) to diagnose SOS. Purpose To assess the reproducibility of Gd-EOB-MRI-based SOS diagnosis and its relationship with response to chemotherapy and long-term outcome. Material and Methods Twenty-six Gd-EOB-MRI scans of patients undergoing chemotherapy for colorectal liver metastases (CRLM) were retrospectively analyzed. Three radiologists, blinded to clinical data, independently scored presence and severity of SOS on a 5-point scale (0, definitely not present to 4, definitely present). Patients with a score ≥3 were considered SOS+. Inter-observer agreement between readers was assessed with kappa statistics. Response (RECIST 1.1.), occurrence of new CRLM during follow-up (hepatic progression) and overall survival (OS) were compared between patients with and without SOS. Results The inter-observer agreement of SOS scores was poor, with quadratic kappas of 0.17–0.40. For the binary outcome of SOS+ (confidence level [CL] 3–4) vs. SOS– (CL 0–2) agreement was poor, with kappas of 0.03–0.37. Median follow-up was 24 months (range 4–44 months). Response and OS between patients with and without SOS did not differ significantly for any of the readers. Conclusion Inter-observer agreement for the diagnosis of SOS on Gd-EOB-MRI is poor. No significant correlation with relevant outcomes was found for any of the readers. Therefore, MRI for SOS diagnosis might be less useful than previously reported. Other techniques should be explored to accurately diagnose SOS in absence of histological confirmation.
Effect of dexmedetomidine for sedation and cognitive function in patients with preoperative anxiety undergoing carotid artery stenting
Authors: Wu Liu-Ping , Kang Wen-qing 
Published: September 2020

Objective This study was performed to examine the effect of dexmedetomidine for intraoperative sedation and postoperative cognitive function in patients with preoperative anxiety undergoing carotid artery stenting. Methods Eighty patients were randomly divided into two groups: the dexmedetomidine group and the control group. Cognitive function was assessed using the Mini-Mental State Examination (MMSE). Anxiety was evaluated using the Amsterdam Preoperative Anxiety and Information Scale. Routine monitoring indices were recorded during surgery, and cognitive function indices were recorded before drug infusion (T0), 10 minutes after drug infusion (T1), at the end of surgery (T2), and 6 hours after surgery (T3). Results The anxiety scores were not significantly different between the two groups at T0, but they became significantly different at T1–3. The MMSE scores in both groups increased at 1 and 7 days postoperatively; although the increase in the dexmedetomidine group was sharper, there was no significant difference. In both groups, the MMSE scores at 1 and 7 days after surgery were not significantly different from those at 1 day before surgery. Conclusion Dexmedetomidine can improve patients’ anxiety and achieve a sufficient sedation effect without causing postoperative cognitive dysfunction.
Reliability and Predictive Validity of Dental Arch Relationships Using the 5-Year-Olds’ Index and the GOSLON Yardstick to Determine Facial Growth
Authors: Pegelow Marie , Rizell Sara , Karsten Agneta , Mark Hans , Lilja Jan , Chalien Midia Najar , Lemberger Mathias , Peterson Petra , Fitzsimons Kate , Deacon Scott , Medina Jibby , Calvert Mary , Mars Michael 
Published: September 2020

Aims: To determine reliability and predictive validity of the 5-year-olds’(5YO) Index and GOSLON Yardstick in 119 patients born with unilateral cleft lip and palate at 5, 7/8, 10, 15/16, and 19 years. Methods: Five hundred thirty-four dental study models were appraised by 2 teams in 2 centers, twice in each center. Intrateam and interteam reliability in scoring the models was calculated using κ. Dental arch prediction rates were calculated as the proportion of models remaining in the same category (good–scores 1 and 2; fair–score 3; poor–scores 4 and 5) over time. Results: Intrateam and interteam κ statistics ranged from 0.74 to 0.89 and from 0.74 to 0.81, respectively. The 5YO Index and GOSLON Yardstick at 5 years produced almost identical results. The prediction rate of 19-year-old (n = 106) outcome was >80% for those in groups 1 and 2 at 5 years, while for those in groups 4 and 5 prediction was poor (<40%). Prediction of groups 4 and 5 remained poor until 10 years when it increased to 77%. At 15/16 years prediction rate was 93% for those in groups 4 and 5. Prediction of cases in group 3 was very poor at all ages. Conclusions: These results question the predictive value of “poor” dental arch relationships before 10 years of age. However, the predictive value of “good” dental arch relationship scores over time is good in all age groups. This has implications for audit policies to predict facial growth outcomes.
School performance, psychiatric comorbidity, and healthcare utilization in pediatric multiple sclerosis: A nationwide population-based observational study
Authors: Boesen Magnus Spangsberg , Blinkenberg Morten , Thygesen Lau Caspar , Eriksson Frank , Magyari Melinda 
Published: September 2020

Background: Pediatric multiple sclerosis (MS) may hamper educational achievements due to psychiatric comorbidity and cognitive impairment. Our aims were to investigate school performance, psychiatric comorbidity, and healthcare utilization following pediatric MS and to differentiate between disability in MS and that arising from a non-brain-related chronic disease. Methods: We included all children (<18 years) with MS onset during 2008–2015 in Denmark with a medical record–validated MS diagnosis. The control groups were children from the general population or children with non-brain-related chronic diseases. Outcomes were register-based on 9–12 grade point average, psychiatric comorbidity, and healthcare visits. Results: Cohorts were children with MS ( n = 92), control children matched to children with MS ( n = 920), children with non-brain-related chronic diseases ( n = 9108), and “healthy” children with neither MS nor brain-related chronic disease ( n = 811,464). School performance in grades 9–12 was similar, but children with MS compared to those with non-brain-related chronic disease had an almost doubled hazard for psychiatric comorbidity (hazard ratio = 1.87; 95% confidence interval = 1.38–2.53; p < 0.0001) and a higher rate of all hospital visits ( p < 0.0001) but a lower rate of hospital admissions ( p = 0.001). Conclusion: Children with MS have a seemingly standard school performance but increased psychiatric comorbidity and a high rate of healthcare utilization.