bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparison of the clinical efficacy of two fixation methods combined with OLIF in the treatment of lumbar spondylolisthesis in adult patients
Authors: Zhang Xinliang , Guo Yunshan , Li Yibing 
Published: February 2022

Abstract
Background
To observe the clinical efficacy of an anterior single rob-screw fixation (ASRSF) combined with the oblique lumbar intervertebral fusion (OLIF) approach compared with a posterior percutaneous screw fixation (PPSF) combined with OLIF in the treatment of lumbar spondylolisthesis.

Method
This is a retrospective case–control study. Patients with degenerative lumbar spondylolisthesis (DLS) treated with either ASRSF combined with OLIF or PPSF combined with OLIF from January 2016 to January 2018 were enrolled in this study. None of the patients had posterior decompression. The visual analog scale (VAS) and Oswestry dysfunction index (ODI) were used for clinical efficacy assessment. The pre- and post-operational disc height, height of foramen, subsidence, and migration of cages, fusion rate and surgery-related complications were compared between the two groups.

Results
Fifty-three patients were included in this single-center study. According to the fixation methods, patients were divided into the ASRSF group (group A, 25 cases) and the PPSF group (group B, 28 cases). There was no statistical difference in surgery-related complications between groups. There was a significant difference in the VAS score at one-week post-surgery (2.3 ± 0.5 vs. 3.5 ± 0.4, P = 0.01), and three months post-operation (2.2 ± 0.3 vs. 3.0 ± 0.3, P = 0.01). Comparison of post-operative imaging data showed that there was a significant difference in the height of the foramen between groups at three months post-surgery(18.1 ± 2.3 mm vs. 16.9 ± 1.9 mm, P = 0.04). At 24 months post-surgery, the ODI was 12.65 ± 3.6 in group A and 19.1 ± 3.4 in group B (P = 0.01). Twelve months after surgery, the fusion rate in group A at 72.0% and 78.6% in group B was not statistically significant (P = 0.75). Fusion was identified in all patients at 24 months post-surgery.

Conclusion
When compared to PPSF, ASRSF combined with OLIF for DLS can reduce post-operative low back pain in the initial stages, maintain the height of the foramen and improve the performance of lumbar function.
The effect of various weight-bearing activities on the motion of lumbar facet joints in vivo
Authors: Wen Wangqiang , Xu Haoxiang , Zhang Zepei , Kou Bowen , Sun Quan , Miao Jun 
Published: February 2022

Abstract
Background
Lumbar facet joints (LFJs) are usually related to the pathogenesis of the spine. The purpose of this paper is to study the effects of lifting load on the motion of lower lumbar facet joints in vivo.

Methods
Ten healthy volunteers aged 25 ≤ 39 years, 5 males and 5 females, were recruited. Using a dual fluoroscopy imaging system (DFIS) combined with CT, firstly, the L3-S1 segment image scanned by CT was converted into a three-dimensional model. Then, the lumbar motion images of L3-S1 vertebrae taken by the DFIS under different loads (0 kg, 5 kg, 10 kg) and different body postures (maximum flexion and extension, maximum left and right bending, and maximum left and right torsion) were captured. Finally, in the Rhino software, the instantaneous motion state of the lumbar spine is reproduced by translation and rotation according to the anatomical structure of the lumbar spine and the previous images. With the help of computer software, a Cartesian coordinate system was placed in the center of each articular surface to measure the kinematics of the articular process and to obtain 6DOF data under different loads (0 kg, 5 kg, 10 kg) in the lumbar facet joints.

Results
In the flexion and extension of the trunk, weight bearing reduced the translational range in the mid-lateral direction. In the L3/4 segment, the lateral translational range of the left and right facet joints gradually decreased with increasing load, and the translational range at 0 kg was significantly greater than that at 10 kg (left side: 0 kg, 0.86° ± 0.57°, 10 kg, 0.24° ± 0.26°, p = 0.01; right side: 0 kg, 0.86° ± 0.59°, 10 kg, 0.26° ± 0.27°, p = 0.01). In the L5/S1 segment, the translation range of the LFJ at 0 kg was significantly greater than that at 10 kg (p = 0.02). Other bending and rotation movements were not found to cause differential changes in the 6DOF of the LFJ. In bending, the rotation range was the largest in the L3/4 segment (p < 0.05) and gradually decreased from top to bottom. At the same level, there were significant differences in the translation range of the left and right facets in the anterior posterior and craniocaudal directions (p < 0.05).

Conclusion
Increasing the load has a significant impact on the coupled translational movement of lumbar facet joints. The asymmetric translational movement of the left and right facet joints may be a factor that accelerates the degeneration of facet joints.
Staged graft replacement with thoracic endovascular aneurysm repair for an extensive thoracoabdominal aortic aneurysm after total arch replacement
Authors: Yoshida Kazufumi , Nakamura Ken , Ishigami Masanosuke , Kinoshita Makoto , Koyama Tadaaki 
Published: February 2022

Abstract
Background
Open surgery for thoracoabdominal aortic aneurysm is highly invasive. Staged repair for extensive TAAA is effective because it has low morbidity and mortality, and preserves spinal cord perfusion. An initial total arch replacement can create a proximal landing zone for thoracic endovascular aneurysm repair.

Case presentation
We performed a staged hybrid thoracoabdominal aortic aneurysm repair after total arch replacement, which consisted of a primary open repair procedure as Crawford Extent III and IV thoracoabdominal aortic aneurysms, and a secondary thoracic endovascular aneurysm repair for the residual lesions for four patients. No spinal cord injury was observed. In one patient, the residual descending aortic aneurysm ruptured six months after the primary open surgery.

Conclusions
Overall, staged hybrid repair is effective and shows low morbidity and mortality. Secondary thoracic endovascular aneurysm repair should be performed as soon as possible to reduce the risk of residual aneurysm rupture.
Ginkgo biloba leaf extract mitigates cisplatin-induced chronic renal interstitial fibrosis by inhibiting the epithelial-mesenchymal transition of renal tubular epithelial cells mediated by the Smad3/TGF-β1 and Smad3/p38 MAPK pathways
Authors: Wei Congying , Zhang Yansong , Zhong Xiaobin , Lu Sisi , Zou Xiaoqin , Yang Yufang , Huang Songqing , Huang Zhenguang 
Published: February 2022

AbstractBackgroundOur previous study indicated thatGinkgo bilobaleaf extract (EGb) could protect against cisplatin-induced acute kidney injury in rabbits. The present study aimed to determine the effects and potential molecular mechanisms of EGb on chronic renal interstitial fibrosis induced by cisplatin using in vivo and in vitro models.MethodsRats received a single dose of cisplatin on Day 1, and a subset of rats was intraperitoneally injected with EGb daily between Days 22–40. In vitro, HK-2 cells were treated with cisplatin, and a subset of cells was cultivated with EGb or SIS3 (Smad3 inhibitor) for 48 h. Renal function of rats was assessed by detecting the levels of serum creatinine (Scr), blood urea nitrogen (BUN) and urinary N-acetyl-β-D-glucosaminidase (NAG). Hematoxylin and eosin staining and Masson’s trichrome staining were used to evaluate the damage and fibrosis of renal tissue. Western blotting, immunohistochemistry and immunofluorescence were used to detect the protein levels of fibrosis-associated proteins and signaling pathway-related proteins. RT–qPCR analysis was used to examine the mRNA levels of related indicators.ResultsEGb significantly decreased the increased levels of Scr, BUN and urinary NAG and attenuated renal damage and the relative area of renal interstitial fibrosis induced by cisplatin. Additionally, EGb decreased the protein levels of α-SMA, Col I, TGF-β1, smad2/3, phosphorylated (p)-smad2/3, p38 MAPK, and p-p38 MAPK; the ratio of p-p38 MAPK/p38 MAPK; and the mRNA level ofp38 MAPKin renal tissues induced by cisplatin. In agreement with in vivo studies, EGb significantly reduced the increased protein levels of these indicators. Additionally, EGb significantly reduced the increased protein levels of vimentin, TIMP-1, and CTGF, as well as the mRNA levels of α-SMA, vimentin, andTGF-β1, while it significantly increased the reduced E-cadherin protein level and the MMP-1/TIMP-1 ratio in HK-2 cells induced by cisplatin. It’s worth noting that the effects of SIS3 in changing the above indicators were similar to those of EGb.ConclusionOur study demonstrated that EGb improved cisplatin-induced chronic renal interstitial fibrosis, and its mechanisms were associated with inhibiting the epithelial-mesenchymal transition of renal tubular epithelial cells via the Smad3/TGF-β1 and Smad3/p38 MAPK pathways.
RETRACTED ARTICLE: Multidisciplinary management for Peutz–Jeghers syndrome and prevention of vertical transmission to offspring using preimplantation genetic testing
Authors: Xu Xiqiao , Song Ruifeng , Hu Kaiyue , Li Ya , Jin Haixia , Chen Bing , Song Wenyan , Zhang Yile , Xu Jiawei , Sun Yingpu 
Published: February 2022

Abstract
Background
Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic disorder caused by STK11 mutation with a predisposition to gastrointestinal polyposis and cancer. PJS patients suffer poor quality of life and are highly concerned about whether deleterious mutations transmit to their offspring. Therefore, this study aimed to propose feasible clinical management and provide effective preimplantation genetic testing for monogenic defect (PGT-M) strategies to protect offspring from inheriting the disease.

Methods
A hospital-based clinical retrospective analysis reviewing the clinical characteristics and fertility aspects was first conducted on 51 PJS patients at the First Affiliated Hospital of Zhengzhou University between January 2016 and March 2021. Among the 51 patients, the PGT-M strategy was further carried out in 4 couples, which started with a biopsy of the trophectoderm cells of embryos and whole genome amplification using multiple displacement amplification. Thereafter, single nucleotide polymorphism linkage analyses based on karyomapping were performed with copy number variations of the embryos identified simultaneously. Finally, prenatal diagnosis was used to verify the validity of the PGT-M results.

Results
A comprehensive management flowchart adopted by the multidisciplinary team model was formulated mainly focusing on clinical genetic and gastrointestinal aspects. Under the guidelines of this management, 32 embryos from 4 PJS pedigrees were diagnosed and 2 couples successfully conceived healthy babies free of the STK11 pathogenic mutation.

Conclusions
Our comprehensive management could help affected families avoid having children with PJS through preimplantation genetic testing and provide meaningful guidance for multidisciplinary clinical practice on PJS.
An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis
Authors: Silva Isabela Mayá Wayhs , Gil-da-Silva-Lopes Vera Lúcia 
Published: February 2022

Abstract
Background
22q11.2 deletion syndrome (22q11.2DS) is a rare disease with an important characteristic—clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic updating of health professionals so that they can recognize these clinical signs as belonging to 22q11.2DS. Updated professionals are equally important for the appropriate and timely clinical management of individuals with a positive diagnosis. In this context, this article aimed to map and analyze the access to healthcare for individuals with 22q11.2DS until the moment of diagnosis.

Results
We analyzed the clinical data of 111 individuals with 22q11.2DS registered in the Brazilian Database on Craniofacial Anomalies (BDCA) from 2008 to 2020. In this study, individuals were diagnosed at a median age of 9 years (mean = 9.7 years). Before the genetic investigation, they accessed 68.75% of the internationally recommended evaluations available at BDCA. Recurrent 22q11.2DS clinical manifestations such as delayed neuropsychomotor development, lip and/or palate defects, cardiac malformation and/or hematological/immunological alteration co-occurred in at least 72.06% of individuals. Cardiac malformation was the only clinical alteration that lowered the median diagnostic age, corresponding to 6.5 years of age with a cardiac malformation versus 11 years of age without one (p = 0.0006).

Conclusions
In Brazil, 22q11.2 DS is under-recognized, and early diagnosis and management of affected individuals are still a distant reality. In this sense, 22q11.2 DS suspicion followed by the elimination of obstacles for its diagnosis confirmation is essential to increase life expectancy and improve the quality of life of these individuals in Brazil.
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey
Authors: Genevaz Delphine , Arnoux Armelle , Marcel Catherine , Brassier Anaïs , Pichard Samia , Feillet François , Labarthe François , Chabrol Brigitte , Berger Marc , Lapointe Anne-Sophie , Frigout Yvann , Héron Bénédicte , Chatellier Gilles , Belmatoug Nadia 
Published: February 2022

Abstract
Background
Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life expectancy, and a successful TCA can help patient who reach adulthood to avoid disruption to health care. In France, some TCA initiatives have been taken by referral centers but in view of the problems encountered by Vaincre les Maladies Lysosomales (VML), the LD patient association, they seem to be insufficient. The aim of this study is to determine the current state of the TCA process and to identify actions to improve it through interviews with patient families and physicians in LD referral centers. The study is based upon an observational, non-interventional, cross-sectional, national survey which used two anonymous questionnaires. These questionnaires, developed by a scientific committee including representatives from VML and medical specialists in LD, were sent to patients who were receiving care in pediatric departments at age 15 years or older. Questionnaires were also sent to their referral pediatricians.

Results
Fifty-four patients were included. Forty-two questionnaires were completed by patients and their corresponding physicians and 12 were completed by physicians only. The majority of the patients (80%) were informed that transfer to adult healthcare would occur, but 52% were informed after their eighteenth birthday. Forty-eight percent indicated that they were informed that a TCA coordinator would be appointed; for 39% the time frame for the transfer was communicated, and 31% were informed of the composition of the adult medical team. Among the actions that patients rated as “important/very important”, and considered to be a priority in their comments, the most frequently cited were the provision of explanatory documents on the TCA (94%), the transmission of the medical file from the pediatric sector to the adult sector (94%) and a joint consultation with both pediatrician and adult unit physician (91%). Physicians were in agreement concerning the primary importance of the last two actions.

Conclusion
This study provides a basis for the deployment, on the national level, of transition programs which include specific actions that patients view as priorities.
Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia
Authors: Zeng Zhi-Gui , Zhou Guang-Peng , Wei Lin , Qu Wei , Liu Ying , Tan Yu-Le , Wang Jun , Sun Li-Ying , Zhu Zhi-Jun 
Published: February 2022

Abstract
Background
Current world experience regarding living donor liver transplantation (LDLT) in the treatment of propionic acidemia (PA) is limited, especially in terms of using obligate heterozygous carriers as donors. This study aimed to evaluate the clinical outcomes of LDLT in children with PA.

Methods
From November 2017 to January 2020, 7 of the 192 children who underwent LDLT at our institution had been diagnosed with PA (median age, 2.1 years; range, 1.1–5.8 years). The primary indication for transplantation was frequent metabolic decompensations in 6 patients and preventative treatment in 1 patient. Of the seven parental living donors, six were genetically proven obligate heterozygous carriers.

Results
During a median follow-up of 23.9 months (range, 13.9–40.2 months), all patients were alive with 100% allograft survival, and no severe transplant-related complications occurred. In the case of liberalized protein intake, they did not suffer metabolic decompensation or disease-related complications and made progress in neurodevelopmental delay and body growth, as well as blood and urinary metabolite levels. In one patient with pre-existing mild dilated cardiomyopathy, her echocardiogram results completely normalized 13.8 months post-transplant. All living donors recovered well after surgery, with no metabolic decompensations or procedure-related complications. Western blotting revealed that the hepatic expressions of PCCA and PCCB in one of the heterozygous donors were comparable to those of the normal healthy control at the protein level.

Conclusions
LDLT using partial liver grafts from asymptomatic obligate heterozygous carrier donors is a viable therapeutic option for selected PA patients, with no negative impact on donors’ and recipients' clinical courses.
Eight months follow-up of corneal nerves and sensitivity after treatment with cenegermin for neurotrophic keratopathy
Authors: Pedrotti Emilio , Bonacci Erika , Chierego Chiara , De Gregorio Alessandra , Cozzini Tiziano , Brighenti Tommaso , Caldarella Grazia , Pastore Giovanlorenzo , Fasolo Adriano , Marchini Giorgio 
Published: February 2022

Abstract
Backgroud
Cenegermin (Oxervate, Dompè Farmaceutici, Milan, IT), a recombinant human NGF, is a potentially healing new drug for neurotrophic keratopathy (NK), a rare but challenging disease affecting the cornea. To date, studies that evaluate its mid-term effect on corneal nerves and sensitivity are lacking.

Objective
To evaluate the recovery and morphology of subbasal corneal nerves in patients treated with Cenegermin for NK and assess their correlation with corneal sensitivity.

Methods
This prospective, observational case series study was carried out between May 2018 and August 2020 at the Ophthalmic Clinic of the University of Verona. Clinical evaluation, sensitivity, and in vivo confocal microscopy (IVCM) were performed in the central and all four corneal sectors at baseline, the end of therapy (8 weeks), and 2, 4, and 8 months after therapy. Consecutive patients with NK (stage 2–3), treated with Cenegermin (1 drop 6 times daily for 8 weeks), were enrolled. During each visit, Corneal nerve fiber length (CNFL), corneal nerve fiber total branch density (CTBD), corneal nerve fiber fractal dimension (CNFraD) and Cochet-Bonnet esthesiometry (CBE) were measured.

Results
We enrolled 18 patients. Complete NK healing was noted in 14/18(78%) patients after 8 weeks of treatment; then in 14(78%), 15(83%), and 13(72%) patients at 2-, 4-, and 8-months, respectively. Starting at 8 weeks through 4-month follow-up there was progressive improvement in CBE in all corneal sectors (p ≤ 0.01), which continued thereafter. There was significant corneal nerve regrowth especially in the peripheral cornea: centripetal progression starting at 8 weeks (CNFL and CNFrad) and significant branching starting at 2 months (CTBD), which continued through to the end of follow up. Sector-coupled IVCM and CBE findings correlated at all evaluations (all r ≥ 0.62 starting at 2 months, with highest values in the peripheral sectors).

Conclusions
After Cenegermin we observed a subbasal corneal nerve regeneration, a recovery of sensitivity and a lasting epithelial healing, suggesting that the effect of its action persists several months after discontinuation in patients with NK.
Sharing individual participant data: through a systematic reviewer lens
Authors: Rydzewska Larysa H. M. , Stewart Lesley A. , Tierney Jayne F. 
Published: February 2022

AbstractAn increasing prevalence of data-sharing models, aimed at making individual participant data (IPD) from clinical trials widely available, should facilitate the conduct of systematic reviews and meta-analyses based on IPD. We have assessed these different data-sharing approaches, from the perspective of experienced IPD reviewers, to examine their utility for conducting systematic reviews based on IPD, and to highlight any challenges. We present an overview of the range of different models, including the traditional, single question approach, topic-based repositories, and the newer generic data platforms, and show that there are benefits and drawbacks to each. In particular, not all of the new models allow researchers to fully realise the well-documented advantages of using IPD for meta-analysis, and we offer potential solutions that can help improve both data quantity and utility. However, to achieve the “nirvana” of an ideal clinical data sharing environment, both for IPD meta-analysis and other secondary research purposes, we propose that data providers, data requestors, funders, and platforms need to adopt a more joined-up and standardised approach.