bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel piston technique versus Ilizarov technique for the repair of bone defect after lower limb infection
Authors: Du Jiafei , Yin Zifei , Cheng Pengfei , Han Pei , Shen Hao 
Published: December 2021

Abstract
Background
We aimed to compare the effectiveness and complications of a novel piston technique versus the Ilizarov technique for the repair of bone defects after lower limb infection.

Patients and methods
We retrospectively reviewed 41 patients who had been treated at our department for lower extremity bone defects following osteomyelitis. There were 38 men and three women with a mean age of 43.41 (range, 12–69 years). The infected bone defects involved 36 tibias and five femurs. The piston technique (PT, group A) was used in 12 patients and the Ilizarov technique (IT, group B) in 29 patients. The mean follow-up period was 28.50 months (PT) and 29.90 months (IT). The modified Application of Methods of Illizarov (ASAMI) criteria was used to evaluate bone healing and functional recovery.

Results
Complete eradication of the infection and union of docking sites were accomplished in both groups. The mean external fixator index (EFI) was 42.32 days/cm in group A versus 58.85 days/cm in group B (p < 0.001). The bone outcomes were similar between groups A and B (p = 0.558) (excellent [9 vs. 19], good [3 vs.10]); group A showed better functional outcomes than group B (p < 0.05) (excellent [7 vs. 6], good [4 vs. 12], fair [0 vs. 10] and poor [1 vs. 1]). Pain was the most common complaint during follow-up, and group A had fewer cases of pin tract infection (1 vs. 6), adjacent joint stiffness (3 vs. 8), and delayed healing of the joint (0 vs. 3).

Conclusions
Satisfactory bone healing can be achieved by using both PT and IT, although PT demonstrated better functional results, lower EFI, and allowed early removal of the external fixation. We found that this novel piston technique can improve the comfort of patients, reduce the incidence of complications, and provide rapid and convenient rehabilitation.
Efficacy and safety of treating chronic nonspecific low back pain with radial extracorporeal shock wave therapy (rESWT), rESWT combined with celecoxib and eperisone (C + E) or C + E alone: a prospective, randomized trial
Authors: Guo Xuejiao , Li Lin , Yan Zhe , Li Yunze , Peng Zhiyou , Yang Yixin , Zhang Yanfeng , Schmitz Christoph , Feng Zhiying 
Published: December 2021

Abstract
Background
To investigate whether respectively radial extracoporeal shock wave therapy (rESWT) or a combination of rESWT, celecoxib and eperisone (rESWT + C + E) are superior in reducing pain in patients with chronic nonspecific low back pain (cnsLBP) compared to C + E alone (a standard treatment of this condition in China).

Methods
140 patients with cnsLBP were randomly allocated to rESWT (n = 47), rESWT + C + E (n = 45) or C + E alone (n = 48) for four weeks between November 2017 and March 2019. Outcome was evaluated using the Pain Self-Efficacy Questionnaire (PSEQ), Numerical Rating Scale (NRS), Oswestry Low Back Pain Disability Questionnaire and Patient Health Questionnaire 9, collected at baseline as well as one week (W1), W2, W3, W4 and W12 after baseline.

Results
All scores showed a statistically significant improvement over time. The PSEQ and NRS scores showed a significant Time × Treatment effect. Patients treated with rESWT had significantly lower mean NRS values than patients treated with rESWT + C + E at W1 and W3, as well as than patients treated with C + E alone at W3 and W4. No severe adverse events were observed.

Conclusions
rESWT may not be inferior to respectively rESWT + C + E or C + E alone in reducing pain in patients with cnsLBP. Level of Evidence: Level I, prospective, randomized, active-controlled trial.
Trial registration: Clinicaltrials.gov Identifier NCT03337607. Registered November 09, 2017, https://www.clinicaltrials.gov/ct2/show/NCT03337607.

Level of evidence
Level I; prospective, randomized, controlled trial.
Intraoperative 3D imaging with cone-beam computed tomography leads to revision of pedicle screws in dorsal instrumentation: a retrospective analysis
Authors: Zimmermann Felix , Kohl Katharina , Privalov Maxim , Franke Jochen , Vetter Sven Y. 
Published: December 2021

Abstract
Background
Correct positioning of pedicle screws can be challenging. Intraoperative imaging may be helpful. The purpose of this study was to evaluate the use of intraoperative 3D imaging with a cone-beam CT. The hypotheses were that intraoperative 3D imaging (1) will lead to an intraoperative revision of pedicle screws and (2) may diminish the rate of perforated screws on postoperative imaging.

Methods
Totally, 351 patients (age 60.9 ± 20.3 a (15–96); m/f 203/148) underwent dorsal instrumentation with intraoperative 3D imaging with 2215 pedicle screws at a trauma center level one. This study first evaluates intraoperative imaging. After this, 501 screws in 73 patients (age 62.5 ± 19.7 a; m/f 47/26) of this collective were included in the study group (SG) and their postoperative computed tomography was evaluated with regard to screw position. Then, 500 screws in 82 patients (age 64.8 ± 14.4 a; m/f 51/31) as control group (CG), who received the screws with conventional 2D fluoroscopy but without 3D imaging, were evaluated with regard to screw position.

Results
During the placement of the 2215 pedicle screws, 158 (7.0%) intraoperative revisions occurred as a result of 3D imaging. Postoperative computed tomography of the SG showed 445 (88.8%) screws without relevant perforation (type A + B), of which 410 (81.8%) could be classified as type A and 35 (7.0%) could be classified as type B. Fifty-six (11.2%) screws in SG showed relevant perforation (type C–E). In contrast, 384 (76.8%) screws in the CG were without relevant perforation (type A + B), of which 282 (56.4%) could be classified as type A and 102 (20.4%) as type B. One hundred and sixteen (23.2%) screws in the CG showed relevant perforation (type C–E).

Conclusion
This study shows that correct placement of pedicle screws in spine surgery with conventional 2D fluoroscopy is challenging. Misplacement of screws cannot always be prevented. Intraoperative 3D imaging with a CBCT can be helpful to detect and revise misplaced pedicle screws intraoperatively. The use of intraoperative 3D imaging will probably minimize the number of revision procedures due to perforating pedicle screws.
Exposure of zebra mussels to radial extracorporeal shock waves: implications for treatment of fracture nonunions
Authors: Wu Wenkai , Maffulli Nicola , Furia John P. , Meindlhumer Lukas , Sternecker Katharina , Milz Stefan , Schmitz Christoph 
Published: December 2021

Abstract
Background
Radial extracorporeal shock wave therapy (rESWT) is an attractive, non-invasive therapy option to manage fracture nonunions of superficial bones, with a reported success rate of approximately 75%. Using zebra mussels (Dreissena polymorpha), we recently demonstrated that induction of biomineralization after exposure to focused extracorporeal shock waves (fESWs) is not restricted to the region of direct energy transfer into calcified tissue. This study tested the hypothesis that radial extracorporeal shock waves (rESWs) also induce biomineralization in regions not directly exposed to the shock wave energy in zebra mussels.

Methods
Zebra mussels were exposed on the left valve to 1000 rESWs at different air pressure (between 0 and 4 bar), followed by incubation in calcein solution for 24 h. Biomineralization was evaluated by investigating the fluorescence signal intensity found on sections of the left and right valves prepared two weeks after exposure.

Results
General linear model analysis demonstrated statistically significant (p < 0.05) effects of the applied shock wave energy as well as of the side (left/exposed vs. right/unexposed) and the investigated region of the valve (at the position of exposure vs. positions at a distance to the exposure) on the mean fluorescence signal intensity values, as well as statistically significant combined energy × region and energy × side × region effects. The highest mean fluorescence signal intensity value was found next to the umbo, i.e., not at the position of direct exposure to rESWs.

Conclusions
As in the application of fESWs, induction of biomineralization by exposure to rESWs may not be restricted to the region of direct energy transfer into calcified tissue. Furthermore, the results of this study may contribute to better understand why the application of higher energy flux densities beyond a certain threshold does not necessarily lead to higher success rates when treating fracture nonunions with extracorporeal shock wave therapy.
Determining association between blood glucose variability and postoperative delirium in acute aortic dissection patients: methodological issues
Authors: Li Cheng-Wen , Xue Fu-Shan , Hu Bin 
Published: December 2021

AbstractThe letter to the editor made several comments regarding possible methodological issues in the recent article by Lin et al. determining the association between blood glucose variability and postoperative delirium in patients undergoing acute aortic dissection surgery with cardiopulmonary bypass, which is published in Journal of Cardiothoracic Surgery. 2021; 16(1):82. Our concerns included the lack of some important perioperative factors associated with postoperative delirium, the process of establishing multivariate model and the method of using the receiver operating characteristic curve analysis to assess the predictive performance of the standard deviation of blood glucose for the development of POD. We would like to invite the authors to comment on these and believe that clarifying these issues would improve the transparency of this study and interpretation of findings.
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
Authors: Lin Yiming , Lin Bangbang , Chen Yanru , Zheng Zhenzhu , Fu Qingliu , Lin Weihua , Zhang Weifeng 
Published: December 2021

AbstractBackgroundPrimary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to investigate the biochemical and genetic characteristics of patients with PCD detected through NBS.ResultsA total of 548 247 newborns were screened for PCD between January 2014 and June 2021; 1714 newborns with low free carnitine (C0) levels were called back and 49 patients were diagnosed with PCD. The latest incidence rate in Quanzhou, China, was estimated to be 1 in 11 189 newborns. NBS results showed that the 49 patients had varying degrees of decreased C0 levels, whereas seven patients exhibited normal C0 levels during the recall review. All patients harbored biallelic pathogenic variants of theSLC22A5gene. Nineteen distinctSLC22A5variants were detected in these 49 patients, and most of the detected variants were clustered in exons 1, 4, and 7. The top eight variants had an allele frequency of 86.73%. The most common variant was c.760C > T (p.R254*) with an allele frequency of 31.63%, followed by c.51C > G (p.F17L) (17.35%) and c.1400C > G (p.S467C) (16.33%). The C0 level of patients with the N/N genotype was significantly lower than that of the M/M group. The C0 levels of patients with genotypes of R254*/R254* and R254*/F17L were far lower than those of patients with the R254*/S467C genotype.ConclusionsThis study presented more than 500,000 NBS data with the latest incidence of 1:11 189 in the Quanzhou area. TheSLC22A5variant spectrum in the selected southern Chinese population has been updated. Patients with null variants were associated with low C0 levels. Combining NBS with genetic testing is critical to improve screening efficiency because patients with PCD may have normal C0 levels during NBS and recall review.
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Authors: Billon Clarisse , Adham Salma , Hernandez Poblete Natalia , Legrand Anne , Frank Michael , Chiche Laurent , Zuily Stephane , Benistan Karelle , Savale Laurent , Zaafrane-Khachnaoui Khaoula , Brehin Anne-Claire , Bal Laurence , Busa Tiffany , Fradin Mélanie , Quelin Chloé , Chesneau Bertrand , Wahl Denis , Fergelot Patricia , Goizet Cyril , Mirault Tristan , Jeunemaitre Xavier , Albuisson Juliette ,   Bordeaux-cohort collaborators, Dieux Anne , Labombarda Fabien , Rheims Sylvain , Boute Odile , Vincentelli André , Toutain Annick , Odent Sylvie , Lesca Gaetan , Vincent Marie , Piard Juliette , Favier Maud , Derambure Philippe , Edery Patrick , Thummler Susanne , Gérard Marion , Morice-Picard Fanny , Layet Valérie , Laroche Cécile , Pasquier Laurent , Sarrazin Elisabeth , Billette de Villemeur Thierry , Guyant-Marechal Lucie 
Published: December 2021

Abstract
Background
FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or connective tissue disorders (CTD) have regularly been associated. We aimed at refining the description of CV and CTD features in patients with FLNA LoF and depicting the multisystemic nature of this condition.

Methods
We retrospectively evaluated FLNA variants and clinical presentations in FLNA LoF patient with at least one CV or CTD feature, from three cohorts: ten patients from the French Reference Center for Rare Vascular Diseases, 23 patients from the national reference diagnostic lab for filaminopathies-A, and 59 patients from literature review.

Results
Half of patients did not present neurological symptoms. Most patients presented a syndromic association combining CV and CTD features. CV anomalies, mostly aortic aneurysm and/or dilation were present in 75% of patients. CTD features were present in 75%. Variants analysis demonstrated an enrichment of coding variants in the CH1 domain of FLNA protein.

Conclusion
In FLNA LoF patients, the absence of seizures should not be overlooked. When considering a diagnosis of PVNH1, the assessment for CV and CTD anomalies is of major interest as they represent interlinked features. We recommend systematic study of FLNA within CTD genes panels, regardless of the presence of neurological symptoms.
Gastrointestinal nematodes and Fasciola hepatica in Norwegian cattle herds: a questionnaire to investigate farmers’ perceptions and control strategies
Authors: Opsal Tonje , Toftaker Ingrid , Nødtvedt Ane , Robertson Lucy Jane , Tysnes Kristoffer Relling , Woolsey Ian , Hektoen Lisbeth 
Published: December 2021

AbstractBackgroundPasture management influences the prevalence and impact of the pasture parasites (PP) in cattle herds, which cause production-limiting disease worldwide. Evaluating farmer management strategies is vital when considering sustainable PP control practices. The aim of this questionnaire-based study was to describe the pasture management and control strategies regarding PP in Norwegian beef cattle (BC) and dairy cattle (DC) production systems with a focus on gastrointestinal nematodes (GIN) andFasciola hepatica.ResultsA total of 745 responses from BC (return rate 20.5%) and 1347 responses from DC farmers (30.7%) were included. The mean total pasture time for DC was 4.2 months for first-season grazers and 4.3 months for second-season grazers and cows, while the corresponding finding in BC was 5.4 months. Home pasture was used for most of the pasture period, particularly for first-season grazer dairy heifers (81%), which were also commonly grazed on the same pasture every year (79%). For most farmers it was necessary for grazing areas to be used for cattle for more than one season (77% of BC farmers and 89% of DC farmers). However, changing the pasture during the season was common in both DC (67%) and BC (70%) herds. The majority of DC farmers (60%) stated that they did not consider that they had a problem with PP. Of the remaining 40%, few respondents could specify whether their herds had a problem due to infection by GIN (11%) or liver flukes (12%). Treatment for GIN was performed by 52% of DC and 34% of BC farmers. Diagnostic faecal samples were collected upon suspicion of parasitic disease by 5% of DC and 16% of BC farmers. Veterinarians were stated as a central source of information about parasite management and treatment.ConclusionsPotential risks for exposure to PP were identified, such as use of the same pasture every year for first-season grazers and frequent use of home pasture. The perception of problems related to PP appeared low. Regular anthelmintic treatment without concurrent use of diagnostic faecal samples seems to be common practice.
Determinants of timely access to Specialized Mental Health Services and maintenance of a link with primary care: a cross-sectional study
Authors: dos Santos Treichel Carlos Alberto , Bakolis Ioannis , Onocko-Campos Rosana Teresa 
Published: December 2021

Abstract
Background
Although access to specialized services is one of the main components of the study of paths to mental health care worldwide, the factors related to the continuity of the patient’s link with Primary Care after admission to a Specialized Mental Health Services still need to be explored in greater depth. Thus, this study aimed to evaluate the determinants of timely access to Specialized Mental Health Services (outcome 1) and maintenance of a link with Primary Care after patients’ admission (outcome 2).

Methods
This is a cross-sectional study, conducted with 341 users of Specialized Mental Health Services at outpatient and community level in a medium-sized city in Brazil between August and November 2019. Associations between the outcomes and the other variables were explored with the use of Poisson regression models with robust variance estimators.

Results
Factors positively associated with timely access were the diagnosis of psychosis or psychoactive substance misuse. The inversely associated factors with this outcome were higher income, having their need for mental health care identified in an appointment for general complaints, having been referred to the current service by Primary Care, having attended the current service for up to 3 years and delay until the first appointment (in a previous service). Regarding the maintenance of a link with Primary Care, factors positively associated were being referred to the current service by Primary Care or private service and receiving visits from Community Health Agents. The inversely associated factors with this outcome were male sex, being employed, having a diagnosis of psychosis or psychoactive substance misuse, and a greater perception of social support.

Conclusions
In addition to individual factors, factors related to the organization of services and the referral between them stood out in influencing both the access and maintenance of the patients’ link with Primary Care. Thus, this study reinforces the idea that integration between Primary Care and Specialized Mental Health Services should be strengthened, both to reduce waiting times for between-service referrals and benefit of care continuity.
Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center
Authors: Wu Xiaoqing , Su Linjuan , Xie Xiaorui , He Deqin , Chen Xuemei , Wang Meiying , Wang Linshuo , Zheng Lin , Xu Liangpu 
Published: December 2021

AbstractBackgroundPregnancy loss is one of the most common complications during pregnancy. Clinical consultation based on etiology analysis are critical for reducing anxiety and distress. This study aimed to perform a comprehensive analysis for products of conception (POC) in miscarriage based on genetic etiology and clinical information.MethodsA retrospective study was conducted according to cytogenetic findings of 1252 POC from spontaneous pregnancy loss over 11 years. The frequencies and profiles of chromosomal abnormalities were discussed according to the classification of women with different maternal ages, previous miscarriage history, normal live birth history, and different modes of conception.ResultsA total of 667 (53.2%) chromosomal abnormalities were observed, including 592 (47.3%) cases of numerical abnormalities, 38 (3.0%) cases of structural abnormalities, and 37 (3.0%) cases of mosaic aberrations. In women above 40 years of age, the rates of chromosomal abnormalities and viable autosomal trisomy were significantly higher than those in women with ≤ 29, 30–34, and 35–39 years of age (p < 0.05). The frequency of abnormal karyotype in women with normal live birth history was 61.1%, significantly higher than 52.5% in women without normal live birth history (p < 0.05). There was no significant differences among women without, with 1–2, and ≥ 3 previous miscarriages regarding the rate of abnormal karyotype (p > 0.05); viable autosomal trisomy was less common in women with ≥ 3 previous miscarriages than women with < 3 miscarriages. The frequency of chromosomal abnormalities was 49.0% and 55.0% in women with assisted conception and natural conception (p > 0.05), respectively; monosomy X was more frequently detected in women with natural conception than assisted conception.ConclusionThe frequencies and profiles of chromosomal abnormalities in early miscarriages are strongly associated with clinical information including maternal age, previous miscarriage, live birth history, and mode of conception. Cytogenetic analysis of POC should be recommended to women with a first miscarriage and women with normal live birth history.
Identification of natural selection in genomic data with deep convolutional neural network
Authors: Nguembang Fadja Arnaud , Riguzzi Fabrizio , Bertorelle Giorgio , Trucchi Emiliano 
Published: December 2021

Abstract
Background
With the increase in the size of genomic datasets describing variability in populations, extracting relevant information becomes increasingly useful as well as complex. Recently, computational methodologies such as Supervised Machine Learning and specifically Convolutional Neural Networks have been proposed to make inferences on demographic and adaptive processes using genomic data. Even though it was already shown to be powerful and efficient in different fields of investigation, Supervised Machine Learning has still to be explored as to unfold its enormous potential in evolutionary genomics.

Results
The paper proposes a method based on Supervised Machine Learning for classifying genomic data, represented as windows of genomic sequences from a sample of individuals belonging to the same population. A Convolutional Neural Network is used to test whether a genomic window shows the signature of natural selection. Training performed on simulated data show that the proposed model can accurately predict neutral and selection processes on portions of genomes taken from real populations with almost 90% accuracy.