bluuebunny/crossref_metadata_2025_split huggingface dataset:
SYVN1 modulates papillary thyroid carcinoma progression by destabilizing HMGB1
Authors: Duan Fei , Kong Fanli , Jiang Taifeng , Liu Hongbing 
Published: April 2024

AbstractE3 ubiquitin ligase synoviolin (SYVN1) has been reported to participate in many human cancers. This study aimed to investigate SYVN1’s roles and molecular pathways in papillary thyroid cancer (PTC). The functions of SYVN1 in PTC were further analyzed using gain- and loss-of-function methods and numerous investigations in cellular function and molecular biology. The findings demonstrated that the overexpression of SYVN1 markedly suppressed the proliferation, migration, and invasion of PTC cell lines (NPA87 and TPC-1). We found that SYVN1 interacted with HMGB1 and promoted its ubiquitination and degradation. In addition, SYVN1 effectively impairs cell proliferation, migration, invasion, and the formation of tumor xenografts in mice models. However, this effect may be partly reversed by overexpressing HMGB1. Thus, SYVN1 may inhibit the proliferation, migration, and invasion of PTC cells by disrupting HMGB1. Consequently, SYVN1 might be considered a promising therapeutic target for PTC.
Systematic review and meta-analysis of endovascular therapy versus open surgical repair for the traumatic lower extremity arterial injury
Authors: Qi Yuhan , Wang Jiarong , Yuan Ding , Duan Pengchao , Hou Li , Wang Tiehao 
Published: April 2024

Abstract
Objective
For traumatic lower extremity artery injury, it is unclear whether it is better to perform endovascular therapy (ET) or open surgical repair (OSR). This study aimed to compare the clinical outcomes of ET versus OSR for traumatic lower extremity artery injury.

Methods
The Medline, Embase, and Cochrane Databases were searched for studies. Cohort studies and case series reporting outcomes of ET or OSR were eligible for inclusion. Robins-I tool and an 18-item tool were used to assess the risk of bias. The primary outcome was amputation. The secondary outcomes included fasciotomy or compartment syndrome, mortality, length of stay and lower extremity nerve injury. We used the random effects model to calculate pooled estimates.

Results
A total of 32 studies with low or moderate risk of bias were included in the meta-analysis. The results showed that patients who underwent ET had a significantly decreased risk of major amputation (OR = 0.42, 95% CI 0.21–0.85; I2=34%) and fasciotomy or compartment syndrome (OR = 0.31, 95% CI 0.20–0.50, I2 = 14%) than patients who underwent OSR. No significant difference was observed between the two groups regarding all-cause mortality (OR = 1.11, 95% CI 0.75–1.64, I2 = 31%). Patients with ET repair had a shorter length of stay than patients with OSR repair (MD=-5.06, 95% CI -6.76 to -3.36, I2 = 65%). Intraoperative nerve injury was just reported in OSR patients with a pooled incidence of 15% (95% CI 6%–27%).

Conclusion
Endovascular therapy may represent a better choice for patients with traumatic lower extremity arterial injury, because it can provide lower risks of amputation, fasciotomy or compartment syndrome, and nerve injury, as well as shorter length of stay.
Critical distance of the sacroiliac joint for open reduction using screw fixation for traumatic sacroiliac joint diastasis: a retrospective study
Authors: Chien Ruei-Shyuan , Chen I-Jung , Lai Chih-Yang , Chen Jui‑Ping , Yu Yi-Hsun 
Published: April 2024

Abstract
Background
Osteosynthesis for sacroiliac joint (SIJ) diastasis using an iliosacral screw (ISS) and a trans-iliac-trans-sacral screw (TITSS) can be performed using a closed or an open method. However, no clear indication for open reduction has been established.

Methods
Data on patients with unilateral traumatic SIJ diastasis who underwent ISS and TITSS fixation were retrospectively collected and separated into groups according to the reduction method: closed reduction group (C group) and open reduction group (O group). Demographic data and perioperative image assessments were compared between the groups. The critical distance of the SIJ was identified to elucidate the indication for open reduction of the diastatic SIJ.

Results
Fifty-six patients met the inclusion criteria over a 3-year period. There was no significant difference in the reduction quality of pelvic ring injuries between the groups, according to Matta’s and Lefaivre’s criteria. The improvement in the SIJ distance was significantly greater in the O group than in the C group in the axial plane on multiplanar computed tomography (p = 0.021). This model predicted that a difference of > 3.71 mm between the injured and healthy SIJ was a recommended indication for open reduction, with an area under the curve of 0.791 (95% confidence interval 0.627–0.955, p = 0.004).

Conclusions
Open reduction for SIJ diastasis might achieve better reduction quality than does closed reduction in the axial plane in selected cases. When the difference between the injured and healthy SIJ was wider than 3.71 mm, open reduction was recommended for satisfactory radiological outcomes.
Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center
Authors: Donadille Bruno , Janmaat Sonja , Mosbah Héléna , Belalem Inès , Lamothe Sophie , Nedelcu Mariana , Jannot Anne-Sophie , Christin-Maitre Sophie , Fève Bruno , Vatier Camille , Vigouroux Corinne 
Published: April 2024

Abstract
Background
Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications.

Objective
We aimed to evaluate the patients’ age at referral to our dedicated national reference center in France and their elapsed time from first symptoms to diagnosis and access to specialized care.

Patients and methods
We analyzed data from patients with rare lipodystrophy and insulin-resistance syndromes referred to the coordinating PRISIS reference center (Adult Endocrine Department, Saint-Antoine Hospital, AP-HP, Paris), prospectively recorded between 2018 and 2023 in the French National Rare Disease Database (BNDMR, Banque Nationale de Données Maladies Rares).

Results
A cohort of 292 patients was analyzed, including 208 women, with the following diagnosis: Familial Partial LipoDystrophy (FPLD, n = 124, including n = 67 FPLD2/Dunnigan Syndrome); Acquired lipodystrophy syndromes (n = 98, with n = 13 Acquired Generalized Lipodystrophy, AGL); Symmetric cervical adenolipomatosis (n = 27, Launois-Bensaude syndrome, LB), Congenital generalized lipodystrophy (n = 18, CGL) and other rare severe insulin-resistance syndromes (n = 25). The median age at referral was 47.6 years [IQR: 31–60], ranging from 25.2 (CGL) to 62.2 years old (LB). The median age at first symptoms of 27.6 years old [IQR: 16.8–42.0]) and the median diagnostic delay of 6.4 years [IQR: 1.3–19.5] varied among diagnostic groups. The gender-specific expression of lipodystrophy is well-illustrated in the FPLD2 group (91% of women), presenting with first signs at 19.3 years [IQR: 14.4–27.8] with a diagnostic delay of 10.5 years [IQR: 1.8–27.0].

Conclusion
The national rare disease database provides an important tool for assessment of care pathways in patients with lipodystrophy and rare insulin-resistance syndromes in France. Improving knowledge to reduce diagnostic delay is an important objective of the PRISIS reference center.
‘BLUES’ procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta
Authors: Di Martino Valerio , Mallone Fabiana , Lambiase Alessandro , Celli Mauro , Mannocci Alice , Celli Luca , Mangiantini Pietro , Fino Pasquale , Moramarco Antonietta 
Published: April 2024

Abstract
Purpose
Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals with OI.
To address this medical need, this study is aimed to design and validate a new method called ‘BLUES’ (BLUe Eye Sclera) to objectively identify and quantify the blue color in the sclera of patients affected by OI.

Methods
Sixty-two patients affected by OI and 35 healthy controls were enrolled in the present prospective study, for a total of 194 eyes analyzed.
In the 'BLUES' procedure, eye images from patients with OI and control subjects were analyzed to assess and grade the blue level of the sclera using Adobe Photoshop Software. The validation process then involved comparing the results obtained with the ‘BLUES’ procedure to the judgement of experienced ophthalmologists (JEO).
A receiver-operating characteristic (ROC) curve analysis was used to examine the overall discriminatory power. The sensitivity and specificity levels and the Cohen's Kappa (K) indexes of ‘BLUES’ and ‘JEO’ were estimated versus the standard OI diagnosis. The K indexes of ‘BLUES’ versus ‘JEO’ were also evaluated.

Results
The optimal cut-off point of the scleral blue peak was calculated at 17%. Our findings demonstrated a sensitivity of 89% (CI95%: 0.835–0.945) and specificity of 87% (CI95%: 0.791–0.949) for the ‘BLUES’ procedure with an agreement versus the diagnosis of OI of 0.747. In comparison, the sensitivity and specificity of ‘JEO’ ranged from 89 to 94% and 77% to 100%, respectively, with an agreement ranging from 0.663 to 0.871 with the diagnosis of OI. The agreement between ‘BLUES ‘and ‘JEO’ evaluations ranged from 0.613 to 0.734.

Conclusions
Our findings demonstrated an 89% sensitivity and an impressive 87% specificity of our method to analyze the blue sclera in OI. The results indicated high agreement with disease diagnosis and were consistent with evaluations by experienced ophthalmologists. The ‘BLUES’ procedure appears to be a simple, reliable and objective method for effectively identify and quantify the blue color of the sclera in OI.
Physical breakdown of CH4 hydrate under stress: a molecular dynamics simulation study
Authors: Jing Xianwu , Zhou Li , Ma Yong , Fu Ziyi , Huang Qian , Zhang Zhe 
Published: April 2024

AbstractAs a solid energy source, CH4 hydrate will inevitably break down physically as the result of geological movement or exploitation. Here, the molecular dynamics method was employed to simulate the uniaxial-deformation behavior of structure I (sI type) CH4 hydrate under stress. The stress increases regardless of whether the hydrate is stretched or squeezed, and other physical parameters also changed, such as hydrate cage numbers, order parameters, and the number of water molecules. A noticeable difference is observed between the two systems. Upon stretching, the stress immediately recovers to 0 GPa once the hydrate is completely stretched apart. During the squeeze process, the stress is ultimately not zero since solid and liquid are always in contact. When the hydrate is stretched apart, about 5% of water molecules change from solid to liquid, about 7.8% of CH4 molecules lose their shelter and become free due to the disintegration of water cages. While in the squeezing process, large cages (51262) are crushed more easily than small cages (512); in the end, about 93.5% of large cages and 73% of small cages are crushed, and approximately 87.5% CH4 is released from the cages. In mining CH4 hydrates, caution must be exercised, as if the hydrates break as a result of stress, a large release of CH4 may pose a security risk.
Effect of functionalization on the adsorption performance of carbon nanotube as a drug delivery system for imatinib: molecular simulation study
Authors: Rezazade Masume , Ketabi Sepideh , Qomi Mahnaz 
Published: April 2024

AbstractIn this study, efficiency of functionalized carbon nanotube as a potential delivery system for imatinib anti-cancer drug was investigated. Accordingly, carboxyl and hydroxyl functionalized carbon nanotube were inspected as a notable candidate for the carriage of this drug in aqueous media. For this purpose, possible interactions of imatinib with pure and functionalized carbon nanotube were considered in aqueous media. The compounds were optimized in gas phase using density functional calculations. Solvation free energies and association free energies of the optimized structures were then studied by Monte Carlo simulation and perturbation method in water environment. Outcomes of quantum mechanical calculations presented that pure and functionalized carbon nanotubes can act as imatinib drug adsorbents in gas phase. However, results of association free energy calculations in aqueous solution indicated that only carboxyl and hydroxyl functionalized carbon nanotubes could interact with imatinib. Monte Carlo simulation results revealed that electrostatic interactions play a vital role in the intermolecular interaction energies after binding of drug and nanotube in aqueous solution. Computed solvation free energies in water showed that the interactions with functionalized carbon nanotubes significantly enhance the solubility of imatinib, which could improve its in vivo bioavailability.
The association between Helicobacter pylori infection and the risk for gout in hyperuricemia patients in China – A cross-sectional study
Authors: Chen Lin , Zhu Yue , Huang Yilin , Shen Keqing , Chen Liying 
Published: April 2024

Abstract
Purpose
Helicobacter pylori (H. pylori) infection has been reported to be associated with multiple metabolic diseases. However, the connection between H. pylori infection and gout has not been explored previously. Our study aimed to investigate the association of gout and H. pylori infection in hyperuricemia population in China.

Patients and methods
This cross-sectional study was performed among the subjects who underwent health checkup in our health promotion center from January 1, 2020 to December 31, 2021. A total of 53,629 subjects with a mean age of 44.2 years were included in this study. H. pylori infection was defined as a positive [13]C-urea breath test. The effect of H. pylori infection on gout was assessed by multiple logistic regression analysis.

Results
720 subjects with gout and 15,077 subjects with asymptomatic hyperuricemia (> 420 µmol/L in male and > 360 µmol/L in female) were enrolled. The prevalence rates of H. pylori infection, hyperuricemia and gout were 26.3%, 29.5%, 1.3%, respectively. The prevalence rate of H. pylori infection was significantly higher in subjects with gout than in those with asymptomatic hyperuricemia (35.0% vs. 27.2%; P<0.001). Multiple logistic regression analysis showed that H. pylori infection was associated with an increased risk of gout independent of serum uric acid level in hyperuricemia population (odds ratio [OR]: 1.320, 95% confidence interval [CI]: 1.124–1.550, P = 0.001).

Conclusion
H. pylori infection is positively associated with higher risk of gout in hyperuricemia population. The causal relationship and potential mechanism between H. pylori infection and gout warrants further investigation.
Differences in DNA methylation status explain phenotypic variability in patients with 5p− syndrome
Authors: Almeida Vanessa Tavares , Chehimi Samar N. , Carvalho Gleyson F. S. , Gasparini Yanca , Nascimento Amom M. , Vieira Lucas L. , Wolff Beatriz M. , Montenegro Marília M. , Kulikowski Leslie D. 
Published: April 2024

AbstractCri Du Chat syndrome, or 5p− syndrome, is characterized by a terminal or interstitial deletion on the short arm of chromosome 5 that causes variable clinical manifestations, including high-pitched cry in newborns, delayed growth, and global development. Different cytogenomic rearrangements, family history, and environmental factors may hinder the genotype–phenotype association. Thus, the phenotypic variability of this syndrome may not be limited only to variations in gene structure, such as deletions and duplications. It is possible that other mechanisms related to the activation or inactivation of promoters and/or exons of actively transcribed genes, such as DNA methylation are involved. Therefore, we studied the genome-wide methylation status profile of peripheral blood samples from fifteen patients with Cri du Chat Syndrome and nine control samples through the array method to look for Differentially Methylated Regions. We found that Differentially Methylated Regions outside the 5p region are mainly associated with regulating gene transcription, splicing, and chromatin remodeling. Most biological pathways are related to transcription, histone and chromatin binding, spliceosome and ribosomal complex, and RNA processing. Our results suggest that changes in the 5p region can cause an imbalance in other chromosomal regions capable of affecting gene modulation and thus explain the phenotypic differences in patients with 5p−.
Higher peripheral blood mitochondrial DNA copy number and relative telomere length in under 48 years Indonesian breast cancer patients
Authors: Limardi Prisca C. , Panigoro Sonar Soni , Siregar Nurjati Chairani , Sutandyo Noorwati , Witjaksono Fiastuti , Priliani Lidwina , Oktavianthi Sukma , Malik Safarina G. 
Published: April 2024

Abstract
Objective
Breast cancer is the leading cause of cancer incidence and mortality among Indonesian women. A comprehensive investigation is required to enhance the early detection of this disease. Mitochondrial DNA copy number (mtDNA-CN) and relative telomere length (RTL) have been proposed as potential biomarkers for several cancer risks, as they are linked through oxidative stress mechanisms. We conducted a case–control study to examine peripheral blood mtDNA-CN and RTL patterns in Indonesian breast cancer patients (n = 175) and healthy individuals (n = 181). The relative ratios of mtDNA-CN and RTL were determined using quantitative real-time PCR (qPCR).

Results
Median values of mtDNA-CN and RTL were 1.62 and 0.70 in healthy subjects and 1.79 and 0.73 in breast cancer patients, respectively. We found a positive association between peripheral blood mtDNA-CN and RTL (p < 0.001). In under 48 years old breast cancer patients, higher peripheral blood mtDNA-CN (mtDNA-CN ≥ 1.73 (median), p = 0.009) and RTL (continuous variable, p = 0.010) were observed, compared to the corresponding healthy subjects. We also found a significantly higher ‘High-High’ pattern of mtDNA-CN and RTL in breast cancer patients under 48 years old (p = 0.011). Our findings suggest that peripheral blood mtDNA-CN and RTL could serve as additional minimally invasive biomarkers for breast cancer risk evaluation.
An 11-month-old boy with tuberculous meningitis presenting as progressive limb weakness, fever, developmental retardation, and loss of consciousness: a case report
Authors: Sharifi Guive , Ansari Mohammad , Chalmiani Elmira Mahmoudi , Javandoust Gharehbagh Farid , Darazam Ilad Alavi 
Published: April 2024

Abstract
Background
Tuberculous meningitis (TBM) accounts for about 1% of all tuberculosis cases and about 5% of extrapulmonary tuberculosis cases. However, it poses major importance because approximately half of those affected die or become severely disabled. Herein, the successful treatment of an 11-month-old boy with progressive limb weakness, fever, developmental retardation, and loss of consciousness due to tuberculosis, was reported.

Case presentation
An 11-month-old (Iranian Turk) boy was referred to Loghman Hakim hospital for progressive limb weakness and loss of previously attained developmental milestones for the past 2 months. He also had persistent fever and loss of consciousness for about 14 to 21 days. Before being referred to our center, the patient had been diagnosed with hydrocephalus at another center due to possible acute bacterial meningitis based on a CT scan and MRI imaging. On physical examination, anterior fontanel bulging and neck stiffness were observed on the admission. His body temperature and heart rate were 38.1 C and 86 beats per minute (bpm), respectively. He had left 6 cranial nerve palsy and spastic quadriparesis with a power of grade 3/5. Other systemic examinations were normal. Endoscopic third ventriculostomy (ETV) (and leptomeningeal biopsy) revealed diffuse thickening of the floor and lateral walls of the 3rd ventricle and also a cobblestone appearance in the form of multiple white patchy lesions was detected on the floor of the 3rd ventricle. CSF analysis and polymerase chain reaction confirmed the TB meningitis. During hospitalization, a temporary EVD (external ventricular drain) was initially inserted. Eventually, defervescence was denoted 5–6 days after initiation of anti-TB medications, and a permanent ventriculoperitoneal shunt was inserted due to hydrocephalus. Gradually his truncal and limb tone and motor function improved, as did his emotional responses to his parents and ability to eat. The patient can walk without help in the 15th month following the operation and resolved hydrocephalus demonstrated on follow-up imaging.

Conclusion
Over half of treated TB meningitis patients die or suffer severe neurological sequelae, mainly due to late diagnosis. Hence, early diagnosis and prompt initiation of TB treatment offer the best chance of a good neurological outcome.
Neglected Sprengel’s deformity in an 80-year-old female cadaver: a case report
Authors: Otsuka Shun , Tamaki Yuki , Matsushita Masaki , Hatayama Naoyuki , Naito Munekazu 
Published: April 2024

Abstract
Background
Sprengel’s deformity is a congenital abnormality of the shoulder girdle. Because scapular retraction, such as the Green procedure, is usually performed during childhood to improve esthetics and shoulder function, Sprengel’s deformity is rarely found in older patients.

Case presentation
We presented a unique case of a Japanese female cadaver with Sprengel’s deformity at the age of 80 years. Anatomical dissection and radiological imaging revealed musculoskeletal anomalies associated with Sprengel’s deformity, including Klippel–Feil syndrome, presence of an omovertebral bone, and absence of the trapezius muscle. In addition, bilateral cervical ribs were in contact with the brachial plexus. These anomalies may lead to numbness, pain, and limited range of motion of the neck and upper girdle with aging.

Conclusions
Because most adult patients with Sprengel’s deformity experience neck pain and limited movement of the shoulder, the presented case is a rare case of neglected Sprengel’s deformity in an 80-year-old cadaver.