bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diagnosis and fine localization of deletion region in Wolf- Hirschhorn syndrome patients
Authors: JI Tao-yun , David CHIA , WANG Jing-min , WU Ye , LI Jie , XIAO Jing , JIANG Yu-wu 
Published: January 2024

Background
Wolf-Hirschhorn syndrome (WHS) results from the partial deletion of 4p. This study aimed to identify and finemap the chromosome deletion regions of Chinese children with Wolf-Hirschhorn syndrome among the developmental delay/mental retardation (DD/MR) patients.

Methods
We analyzed the relationship of phenotype and genotype. Inclusion criteria were: moderate to severe DD/MR, no definite perinatal brain injury, and no trauma, toxication, hypoxia, infection of central nervous system; routine karyotyping was normal, no evidence of typical inherited metabolic disorder or specific neurodegenerative disorders from cranial neuro-imaging and blood/urinary metabolic diseases screening; no mutation of FMR1 in male patients, no typical clinical manifestation of Rett syndrome in female patients. Multiplex ligation-dependent probe amplification (MLPA) and Affymetrix genome-wide human SNP array 6.0 assays were applied to accurately define the exact size of subtelomeric aberration region of four WHS patients.

Results
All four WHS patients presented with severe DD, hypotonia and microcephaly, failure to thrive, 3/4 patients with typical facial features and seizures, 2/4 patients with congenital heart defects and cleft lip/palate, 1/4 patients with other malformations. The length of the deletions ranged from 3.3 Mb to 9.8 Mb. Two of four patients had “classic” WHS, 1/4 patients had “mild”-to-“classic” WHS, and 1/4 patients had “mild” WHS.

Conclusions
WHS patients in China appear to be consistent with those previously reported. The prevalence of signs and symptoms, distribution of cases between “mild” and “classic” WHS, and the correlation between length of deletion and severity of disease of these patients were all similar to those of the patients from other populations.
Activated vascular endothelia regulate invasion of glioma cells through expression of fibronectin
Authors: LIN Zhi-xiong , YANG Li-juan , HUANG Qiang , FU Jin 
Published: January 2024

Background
Previous researches have indicated that glioma invasion may occur within a tumor-host microecology, and that fibronectin may be involved in glioma invasion as an important component of the extracellular matrix. However, how the interaction between tumor cells and vascular endothelial cells affects glioma invasion is poorly understood. The aim of this study was to investigate the effects of the interaction between tumor cells and vascular endothelial cells on glioma invasion, and the relationship of this interaction to fibronectin.

Methods
The localization of fibronectin in different brain astrocytoma tissues was determined by immunohistochemistry. Then, vascular endothelial cells and glioma cells were co-cultured in a Transwell co-culturing system. Fibronectin expression was detected by reverse transcriptase-polymerase chain reaction, immunocytochemistry, and enzyme-linked immunosorbent assay. Additionally, the influence of the interaction between tumor cells and vascular endothelial cells on glioma cell invasion was determined by an in vitro rapid invasion test.

Results
In brain astrocytoma tissues, fibronectin was present on the endothelial cells, in the extracellular matrix. Fibronectin expression was greater in higher grade tumors than in lower grade tumors. The interaction of glioma cells and vascular endothelial cells in vitro induced fibronectin release from vascular endothelial cells, which in turn stimulated glioma cell migration. This effect was inhibited by fibronectin blocking antibody.

Conclusion
Glioma cells may induce vascular epithelial cells to express fibronectin, and in turn fibronectin could promote glioma cell invasion.

Chin Med J 2010;123(13):1754–1761
Arsenic trioxide up-regulates Fas expression in human osteosarcoma cells
Authors: YANG Guo-fu , LI Xiang-hui , ZHAO Zhe , WANG Wen-bo 
Published: January 2024

Background
Osteosarcoma is a common primary malignant tumor of bone with a poor prognosis due to its propensity for metastasis. The prognosis of patients is highly dependent on the presence or absence of lung metastasis and on the effectiveness of treatment against it. It has been reported that low level expression of Fas protein in human osteosarcoma cell is closely associated with lung metastasis. A large number of studies have shown that arsenic trioxide (ATO) can inhibit proliferation and induce apoptosis of many cancer cell lines; however, its effects on human osteosarcoma cells (Saos-2 cell line) remains unknown. The aim of this study was to investigate the effects of ATO on Saos-2 cells and to characterize its mechanism of Fas-expressing.

Methods
A group of Saos-2 cells was treated with or without 0.5, 1, 2, 4 and 8 μmol/L ATO for three successive days, and the cytotoxicity of ATO was determined by an 3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyltetrazolium bromide (MTT) assay. Morphological changes in cells were studied by acridine orange/ethidium bromide (AO/EB) double staining. Flow cytometry (FCM) was used to assay cell DNA distribution. Another group of cells was pretreated with 10 nmol/L matrix metalloproteinase 7 (MMP-7) for 3 hours. They were then incubated with or without 2 μmol/L ATO for 24, 48 and 72 hours. Cytotoxicity, Fas protein and mRNA levels were systematically studied using MTT, Western blotting and real-time PCR, respectively. Cell proliferation, cell cycle progression and apoptosis were examined in this study.

Results
Proliferation of Saos-2 cells was inhibited by ATO in both a dose- and time-dependent manner. The IC50 values at 24, 48 and 72 hours were 9.30, 5.54 and 3.49 μmol/L, respectively. The survival rate of Saos-2 cells in the MMP-7 and ATO co-treated group was significantly higher than the ATO group, but it was lower than the control group. ATO induced G1 phase arrest of the cell cycle and very efficiently stimulated apoptosis in Saos-2 cells, as evidenced by flow cytometric detection of sub-G1 DNA content and AO/EB staining. Western blotting results indicated that Fas (FasL) protein expression in osteosarcoma cultures markedly increases in a time dependent manner after exposure to ATO. Compared with control, treatment with ATO 2 μmol/L and 4 μmol/L for 48 hours, resulted in increase of Fas gene expression to 28.31% and 56.74%, respectively. Our results indicated that ATO induced-apoptosis of Saos-2 cells may be mediated through the Fas pathway.

Conclusions
ATO suppressed cell proliferation of Saos-2 cell in a dose- and time-dependent manner and increased Fas protein expression. However, Fas-mediated apoptosis was incompletely interrupted by MMP-7, which suggested that other molecular mechanisms may mediate this process.

Chin Med J 2010;123(13):1768–1773
Inactivation of the Rho-ROCK signaling pathway to promote neurologic recovery after spinal cord injuries in rats
Authors: Wu Bin-qi , Bi Zheng-gang , Qi Quan 
Published: January 2024

Background
After injury, axonal regeneration of the adult central nervous system (CNS) is inhibited by myelin-derived growth-suppressing proteins. These axonal growth inhibitory proteins are mediated via activation of Rho, a small GTP-binding protein. The activated form of Rho, which is bound to GTP, is the direct activator of Rho kinase (ROCK) through serial downstream effector proteins to inhibit axonal regeneration. The objective of this study was to observe the therapeutic effect of inactivation of the Rho-ROCK signaling pathway to promote neurologic recovery after spinal cord injuries in rats.

Methods
One hundred and twenty adult female Sprague-Dawley rats were randomly divided into three groups. Laminectomies alone were conducted in 40 rats in the sham group. Laminectomies and spinal cord transections were performed in 40 rats in the control group (treated with normal saline administered intraperitoneally). Laminectomies and spinal cord transections were performed in 40 rats in the fasudil-treated group (treated with fasudil administered intraperitoneally). Neurologic recovery was evaluated before surgery and 3 days, and 1, 2, 3, and 4 weeks after surgery using the Basso-Beattie-Bresnahan (BBB) scale of hind limb movement. At the same time, the expression of RhoA mRNA was determined with RT-PCR. Histopathologic examinations and immunofluorescence staining of NF were performed 1 month after surgery.

Results
Compared with the control group, the BBB scores of the fasudil-treated group were significantly increased and the expression of RhoA mRNA was significantly decreased. In the fasudil-treated group, a large number of NF-positive regenerating fibers was observed; some fibers crossed the slit of the lesion.

Conclusion
Inactivation of the Rho-ROCK signaling pathway promotes CNS axonal regeneration and neurologic recovery after spinal cord injuries in rats.
Urinary metabonomics of stomach cancer assessed by rapid resolution liquid chromatography/time-of-flight mass spectrometry
Authors: Zhang Yan , Ren Hui , Jiang Yang , Gao Yu-fei , Liu Shu-ying 
Published: January 2024

Background
Stomach cancer is among the most commonly occurring malignancies worldwide. It would be beneficial to develop a urine-based assay whereby patients with undiagnosed stomach cancer could be screened and their cancer detected in the earliest stages.

Methods
A urinary metabonomics method based on ultra-performance liquid chromatography combined with quadruple time-of-flight mass spectrometry was used to analyze urine samples from patients with stomach cancer and healthy controls.

Results
Statistical analysis revealed a clear separation of patients and healthy controls using the aforementioned methodology. Some significantly changed metabolites were identified.

Conclusions
Use of the metabonomics method in patients with stomach cancer could effectively detect distinct changes in urinary metabolites and had the capacity to detect cancer; therefore, it may be a valuable tool in earlier diagnosis. Furthermore, the detection and identification of altered metabolites in the current study may help elucidate possible mechanisms involved in stomach cancer.
Clinical significance of hepatic artery variations originating from the superior mesenteric artery in abdominal tumor surgery
Authors: HUANG Yuan , LIU Chao , LIN Jin-ling 
Published: January 2024

Background
Hepatic artery variations are frequent clinical occurrences. The aim of this study was to investigate the characteristic course of variant hepatic arteries originating from the superior mesenteric artery for the purpose of providing instructions for abdominal tumor surgery.

Methods
The course of variant hepatic arteries originating from the superior mesenteric artery was studied in 400 patients with liver cancer confirmed by digital subtraction angiography (DSA) and multi-slice spiral computed tomography angiography (MSCTA), and 86 patients with gastric cancer confirmed by preoperative MSCTA between June 2008 and June 2010 in the First Affiliated Hospital of Guangxi Medical University.

Results
Hepatic artery variations originating from the superior mesenteric artery were noticed in 49 liver cancer patients and 14 gastric cancer patients (total 63 cases), with a variation rate of 12.96%, including two cases (3.17%) where the hepatic arteries ran along the anterior pancreas, and 61 cases (96.83%) where the hepatic arteries ran along the posterior pancreas.

Conclusions
Hepatic artery variations originating from the superior mesenteric artery present as two types: the pre-pancreas type and the post-pancreas type with the latter predominating. This finding is of clinical significance in abdominal tumor surgeries where clearance of portal lymph nodes is needed.
Serum-free media for articular chondrocytes in vitro expansion
Authors: SHAO Xin-xin , Neil Duncan A. , LIN Lin , FU Xin , ZHANG Ji-ying , YU Chang-long 
Published: January 2024

Background

In vitro chondrocyte expansion is a major challenge in cell-based therapy for human articular cartilage repair. Classical culture conditions usually use animal serum as a medium supplement, which raises a number of undesirable questions. In the present study, two kinds of defined, serum-free media were developed to expand chondrocytes in monolayer culture for the purpose of cartilage tissue engineering.

Methods
Bovine chondrocytes were expanded in serum-free media supplemented with fibroblast growth factor-2 and platelet-derived growth factor or fibroblast growth factor-2 and insulin-like growth factor. Expansion culture in a conventional 10% fetal bovine serum (FBS) medium served as control. Fibronectin coating was used to help cell adhesion in serum-free medium. Next, in vitro three-dimensional pellet culture was used to evaluate the chondrocyte capacity. Cell pellets were expanded in different media to re-express the differentiated phenotype (re-differentiation) and to form cartilaginous tissue. The pellets were assessed by glycosaminoglycans contents, collagen II, collagen I and collagen X immunohistological staining.

Results
Chondrocytes cultured in serum-free media showed no proliferation difference than cells grown with 10% FBS medium. In addition, chondrocytes expanded in both serum-free media expressed more differentiated phenotypes at the end of monolayer culture, as indicated by higher gene expression ratios of collagen type II to collagen type I. Pellets derived from chondrocytes cultured in both serum-free media displayed comparable chondrogenic capacities to pellets from cells expanded in 10% FBS medium.

Conclusion
These findings provide alternative culture approaches for chondrocytes in vitro expansion, which may benefit the clinical use of autologous chondrocytes implantation.
Investigation of mental health and its influence on Chinese cancer patients using a multidisciplinary screening flow: an epidemiological survey in the west of China
Authors: SONG Huan , LI Jin , LU You , DENG Lei , SUN Xue-li 
Published: January 2024

Background
Despite psycho-oncological concerns and studies having thrived these past decades, sparse reports illustrate to what extent Chinese cancer patients are involved and influenced by comorbid mental health problems. To investigate the mental health condition of cancer patient, as well as its possible impacts on prognosis, the first large-scale survey was performed in the west of China.

Methods
For standardizing and facilitating the assessment of mental illness in inpatients with cancer, a multidisciplinary rating flow was designed and established. On the basis of this system, between May 1st and 31st 2009, 2279 cancer inpatients from nine medical centers received preliminarily screening executed by oncologists using screening scales Mental Health Screening Questionnaire (MHSQ), Zung self-rating depression scales (SDS), Zung self-rating anxiety scale (SAS), and posttraumatic stress disorder checklist-civilian version (PCL-C). Further analyses of the ones screened positively were conducted by psychiatrists applying corresponding symptom-rating scales (HAMA/HAMD/BPRS). We summarized the overall proportion of patients with impaired mental health based on the data acquired from preliminary screening, and then calculated occurrence rates of each clinical syndrome of mental disorder according to symptom conclusions. The impact of comorbid mental illness was evaluated through the follow-up scheduled 1 year later, by comparing the survival rate, progression of disease, and quality of life (QoL) between subgroup patients with or without clinical syndrome of mental disorder.

Results
In preliminary screenings, 26.1% (595/2279) yielded positive results. Further symptom conclusions confirmed 15.8% (359/2279) with clinical syndrome of mental disorder. Regarding specific type of syndrome, the occurrence rates of depression, anxiety, psychotic symptoms, and stress-related disorders were 13.3%, 10.2%, 2.8%, and 1.4%, respectively. Follow-up assessments were successfully performed in 1918 subjects (84.2%). Further analyses indicated that although insignificant influence was observed in terms of 1-year survival rate and disease progression, cancer patients with a clinical syndrome of mental disorder obtained significantly lower levels (P <0.05) in five domains of QoL (scored by QLQ-C30).

Conclusion
In China, at least 26% of cancer patients experienced impaired mental health, of which 60% already had a detectable clinical syndrome of mental disorder, which could significantly undermine their QoL.
Genetic characterization and protein stability analysis of a Chinese family with Von Hippel-Lindau disease
Authors: Gao Yong , Huang Yan-ping , Tu Xiang-an , Luo Dao-sheng , Wang Dao-hu , Qiu Shao-peng , Xiang Peng , Li Wei-qiang , Jan Rohozinski , Zhang Yuan-yuan , Sun Xiang-zhou , Deng Chun-hua 
Published: January 2024

Background
Von Hippel-Lindau disease (VHL), a heritable autosomal dominant disease characterized by neoplasia in multiple organ systems, has rarely been reported in Asia. We genetically investigated a unique Chinese family with VHL disease and performed an analysis of the VHL protein stability.

Methods
Genomic deoxyribonucleic acid (DNA) extracted from peripheral blood was amplified by polymerase chain reaction (PCR) to three exons of the VHL gene in 9 members of the Chinese family with VHL disease. PCR products were directly sequenced. We estimated the effects of VHL gene mutation on the stability of pVHL, which is indicated by the free energy difference between the wild-type and the mutant protein (ΔΔG).

Results
The Chinese family was classified as VHL type 1. Three family members, including two patients and a carrier, had a T to G heterozygotic missense mutation at nucleotide 515 of the VHL gene exon 1. This missense mutation resulted in the transition from leucine to arginine in amino acid 101 of the VHL protein. There was low stability of the VHL protein (the ΔΔG was 12.71 kcal/mol) caused by this missense mutation.

Conclusions
We first reported a family with this VHL gene mutation in Asia. This missense mutation is predicted to significantly reduce the stability of the VHL protein and contribute to the development of the renal cell carcinoma (RCC) phenotype displayed by this family. The genetic characterization and protein stability analysis of families with VHL disease are important for early diagnosis and prevention of the disease being passed on to their offspring.
A single center experience: post-transplantation adjuvant chemotherapy impacts the prognosis of hepatocellular carcinoma patients
Authors: Junyi Wu , Hongcheng Sun , Zhongbo Han , Zhihai Peng 
Published: January 2024

Background
The aim of this research was to investigate the impact of post-transplantation adjuvant chemotherapy in the prevention of tumor recurrence and metastasis for hepatocellular carcinoma (HCC) exceeding Milan criteria after liver transplantation.

Methods
A total of 117 patients with HCC exceeding the Milan criteria who had undergone orthotopic liver transplantation (OLT) from August 2002 to February 2009 were enrolled and retrospectively analyzed. The patients were divided into four groups according to chemotherapy regimens and the impact of different chemotherapy regimens on survival, disease-free survival, and adverse effects were compared.

Results
One year survival rates for the gemicitabine, conventional chemotherapy, oxaliplatin plus capecitabine and the best supportive care (BSC) group were 87.5%, 84.2%, 81.6%, and 67.5%. The 3-year survival rates were 48.1%, 25.9%, 31.6%, and 33.7%, respectively for the four groups. One year disease free survival rates for the four groups were 69.8%, 47.4%, 53.8%, and 45.7% respectively. And 3-year disease free survival rates were 43.2%, 23.7%, 23.6%, and 25.1% for the four groups. Stratification analysis showed that the gemcitabine regimen and conventional chemotherapy could significantly improve the survival rate and disease free survival rate for HCC patients who had major vascular invasion and/or microvascular invasion after liver transplantation compared with BSC group.

Conclusions
For HCC patients beyond Milan criteria, especially who had vascular invasion and/or micorvascular invasion, post-transplantation adjuvant chemotherapy can significantly improve survival. Gemcitabine is a proper regimen for postoperative adjuvant chemotherapy. Conventional chemotherapy can also benefit patients, but the adverse effects are not satisfactory.
Frequency of T-cell FoxP3+ Treg and CD4+/CD8+ PD-1 expression is related to HBeAg seroconversion in hepatitis B patients on pegylated interferon
Authors: MA Hui , ZHANG Heng-hui , WEI Lai 
Published: January 2024

Background
Host immune responses against hepatitis B virus (HBV) induced by antiviral therapy play a crucial role in viral clearance. To further investigate the immune mechanisms underlying the differences between respondents and non-respondents, we analyzed myeloid dendritic cells (mDCs), plasmacytoid dendritic cells (pDCs), FoxP3+ regulatory T cells (FoxP3+ Treg) and programmed death 1 (PD-1) expression in CD4+/CD8+ T cells in chronic hepatitis B patients undergoing pegylated interferon (PegIFN)α-2b treatment.

Methods
Patients received PegIFNα-2b for 24 or 48 weeks, with follow-up at 24 weeks. The frequencies of mDCs, pDCs, FoxP3+ Treg, and PD-1 expression by CD4+/CD8+ T cells were evaluated by flow cytometry at baseline, weeks 4 and 12, end of treatment, and follow-up (12/24 weeks).

Results
In HBeAg seroconverters (respondents), the mDC relative frequency decreased at week 4 and then rebounded at week 12. The pDC relative frequency decreased consistently. In non-HBeAg seroconverters (non-respondents), both mDC and pDC frequencies decreased slightly. The FoxP3+ Treg relative frequency decreased during treatment and remained low during follow-up in respondents, while in non-respondents it decreased slightly during therapy but rebounded after discontinuation. In patients with HBeAg <17.55 PEI-U/ml at week 12 and <8.52 PEI-U/ml at week 24, the FoxP3+ Treg frequency decreased during treatment and at follow-up. In respondents, CD4+PD-1 and CD8+PD-1 levels decreased at week 4 and remained low at week 12. In non-respondents, PD-1 expression decreased at week 4 but rebounded at week 12.

Conclusions
The results indicate that the dynamic changes in DCs, FoxP3+ Treg frequency, and PD-1 expression by CD4+ and CD8+ T cells exhibit different trends in HBeAg and non-HBeAg seroconversion patients. During PegIFNα-2b treatment of chronic hepatitis B patients, these changes may be of predictive value for HBeAg seroconversion. HBsAg and HBeAg levels are related to FoxP3+ Treg frequency.