bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
Authors: YE Zhen-zhen , NAN Xu , ZHAO Hong-shan , CHEN Xue-rong , SONG Qing-hua 
Published: January 2024

Background
Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. In this study, we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix.

Methods
In this study, we identified a Chinese family with monilethrix through light microscopic and scanning electron microscopic (SEM) examination. Genomic DNA from peripheral blood samples was prepared. DNA samples from controls and monilethrix patients were subject to polymerase chain reaction (PCR) amplification. Two pairs of primers were used to amplify the seventh exon of KRT86. Mutation screening of the PCR products was detected using direct sequencing.

Results
Light microscopic examination showed a regular alternate enlargement and narrow area. SEM examination showed that part of the cuticle of the nodules shed and disappeared gradually in the narrow area with granular protrusions on the surface similar to the erosion-like structure. Parallel longitudinal ridge and groovepattern appeared, and the ridges varied in width, like dead wood. A heterozygous transversion mutation c.1204G>A(p.E402K) in the seventh exon of KRT86 was identified in both patients.

Conclusions
The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix, and is a mutation hot spot of KRT86. Further research is needed to explore the relationship between the phenotype and the mutation of the type II hair keratin gene KRT86 of monilethrix.
Intraoperative microvascular Doppler monitoring in intracranial aneurysm surgery
Authors: HUI Pin-jing , YAN Yan-hong , ZHANG Shi-ming , WANG Zhong , YU Zheng-quan , ZHOU You-xin , LI Xiang-dong , CUI Gang , ZHOU Dai , HUI Guo-zhen , LAN Qing 
Published: January 2024

Background
Surgical treatment of intracranial aneurysms is often compromised by incomplete exclusion of the aneurysm or stenosis of parent vessels. Intraoperative microvascular Doppler (IMD) is an attractive, noninvasive, and inexpensive tool. The present study aimed to evaluate the usefulness and reliability of IMD for guiding clip placement in aneurysm surgery.

Methods
A total of 92 patients with 101 intracranial aneurysms were included in the study. IMD with a 1.5-mm diameter, 20-MHz microprobe was used before and after clip application to confirm aneurysm obliteration and patency of parent vessels and branching arteries. IMD findings were verified postoperatively with digital subtraction angiography (DSA) or dual energy computed tomography angiography (DE-CTA). Ninety consecutive patients, harboring 108 aneurysms, who underwent surgery without IMD was considered as the control group.

Results
The microprobe detected all vessels of the Circle of Willis and their major branches. Clips were repositioned in 24 (23.8%) aneurysms on the basis of the IMD findings consistent with incomplete exclusion and/or stenosis. IMD identified persistent weak blood flow through the aneurismal sac of 11 of the 101 (10.9%) aneurysms requiring clip adjustment. Stenosis or occlusion of the parent or branching arteries as indicated by IMD necessitated immediate clip adjustment in 19 aneurysms (18.8%). The mean duration of the IMD procedure was 4.8 minutes. The frequency of clip adjustment (mean: 1.8 times per case) was associated with the size and location of the aneurysm. There were no complications related to the use of IMD, and postoperative angiograms confirmed complete aneurysm exclusion and parent vessel patency. About 8.3% (9/108) aneurysms were unexpectedly incompletely occluded, and 10.2% (11/108) aneurysms and parent vessel stenosis without IMD were detected by postoperative DSA or DE-CTA. IMD could reduce the rate of residual aneurysm and unanticipated vessel stenosis which demonstrated statistically significant advantages compared with aneurysm surgery without IMD.

Conclusion
IMD is a safe, easily performed, reliable, and valuable tool that is suitable for routine use in intracranial surgery, especially in complicated, large, and giant aneurysms with wide neck or without neck.
Randomized comparison of intracoronary tirofiban versus urokinase as an adjunct to primary percutaneous coronary intervention in patients with acute ST-elevation myocardial infarction: results of the ICTUS-AMI trial
Authors: ZHU Tian-qi , ZHANG Qi , DING Feng-hua , QIU Jian-ping , JIN Hui-geng , JIANG Li , LU Lin , ZHANG Rui-yan , HU Jian , YANG Zhen-kun , SHEN Ying , SHEN Wei-feng 
Published: January 2024

Background
No randomized trial has been performed to compare the efficacy of an intracoronary bolus of tirofiban versus urokinase during primary percutaneous coronary intervention (PCI). We investigated whether the effects of adjunctive therapy with an intracoronary bolus of urokinase was noninferior to the effects of an intracoronary bolus of tirofiban in patients with ST-elevation myocardial infarction (STEMI) undergoing PCI.

Methods
Atotal of 490 patients with acute STEMI undergoing primary PCI were randomized to an intracoronary bolus of tirofiban (10 μg/kg; n=247) or urokinase (250 kU/20 ml; n=243). Serum levels of P-selectin, von Willebrand factor (vWF), CD40 ligand (CD40L), and serum amyloid A (SAA) in the coronary sinus were measured before and after intracoronary drug administration. The primary endpoint was the rate of complete (≥70%) ST-segment resolution (STR) at 90 minutes after intervention, and the noninferiority margin was set to 15%.

Results
In the intention-to-treat analysis, complete STR was achieved in 54.4% of patients treated with an intracoronary bolus of urokinase and in 60.6% of those treated with an intracoronary bolus of tirofiban (adjusted difference: -7.0%; 95% confidence interval: -15.7% to 1.8%). The corrected TIMI frame count of the infarct-related artery was lower, left ventricular ejection fraction was higher, and the 6-month major adverse cardiac event-free survival tended to be better in the intracoronary tirofiban group. An intracoronary bolus of tirofiban resulted in lower levels of P-selectin, vWF, CD40L, and SAA in the coronary sinus compared with an intracoronary bolus of urokinase after primary PCI (P<0.05).

Conclusions
An intracoronary bolus of urokinase as an adjunct to primary PCI for acute STEMI is not equally effective to an intracoronary bolus of tirofiban with respect to improvement in myocardial reperfusion assessed by STR. This may be caused by less reduction in coronary circulatory platelet activation and inflammation.
Effects of Bailing capsules for renal transplant recipients: a retrospective clinical study
Authors: Wang Wei , Zhang Xi-nuo , Yin Hang , Li Xiao-bei , Hu Xiao-peng , Liu Hang , Wang Yong , Zhang Xiao-dong 
Published: January 2024

Background
The administration of immunosuppressive agents is always an important factor affecting the long-term survival of organ transplantation recipients. The best therapeutic regimen which either decreases the side effects of immune inhibitors or enhances the immunosuppressive efficacy is the goal of transplantation surgeons continue to search. This study investigated the effects of Bailing (Cordyceps sinensis) capsules on renal function and other systems of the body after renal transplantation.

Methods
Clinical data of 80 renal transplant recipients who were administered Bailing capsules and 100 renal transplant recipients in the control group were retrospectively analyzed to compare the incidences of graft rejection and infection after transplantation. The results of routine blood and urine tests, liver and kidney functions, uric acid (UA), 24-hour urine protein (24 h-Upro), as well as 1- and 5-year patient renal allograft survival rates were compared between the two groups.

Results
The follow-up was 3-5 years. The two groups were not shown to have statistically significant differences in age, gender, cold ischemia time, donor-recipient human leukocyte antigen typing, panel reactive antibodies, lymphocytotoxicity tests, and the application of immunosuppressive agents at the baseline. The two groups were also not significantly different in the incidence of acute injection after transplantation, recovery of renal function, and blood glucose level. The Bailing group was significantly lower than the control in the incidence of infection, serum aspartate aminotransferase/alanine aminotransferase, total bilirubin, UA, and 24-hour Upro, but significantly higher than the control group in peripheral red blood cell count and white blood cell count (P<0.05). One-year and 5-year patient survival rates were 98.7% and 98.0%, respectively in the Bailing group, 95.0% and 93.0%, respectively, in the control group. One-year and 5-year renal allograft survival rates were 97.5% and 95.0%, respectively, in the Bailing group, and 92.5% and 84.0%, respectively, in the control group. The comparison of patient and renal allograft survival rates between the two groups using Kaplan-Meier survival curves and log-rank test showed that only the differences in renal allograft survival rates were statistically significant (Log-rank: 5 years: patient survival P=0.420; renal allograft survival P=0.049).

Conclusion
Bailing capsules were effective in preventing allograft rejection, protecting liver and kidney functions, stimulating hematopoiesis, and reducing the incidence of infection and thus are ideal immunoregulators.
Demethylating agent decitabine induces autologous cancer testis antigen specific cytotoxic T lymphocytes in vivo
Authors: ZHOU Ji-hao , YAO Yu-shi , WANG Li-xin , WANG Jia , LI Yong-hui , JIANG Meng-meng , ZHOU Min-hang , GAO Xiao-ning , LI Rui-sheng , WANG Li-li , YU Li 
Published: January 2024

Background
Cancer testis antigens (CTAs) are a novel group of tumor associated antigens. Demethylating agent decitabine was reported to be able to up-regulate CTAs through its hypomethylation mechanism, thus enhance the immunogenicity of leukemia cells. However, few researches have ever focused on the questions that whether this immunostimulatory effect of decitabine could induce autologous CTA specific cytotoxic T lymphocytes (CTLs) in vivo, and if so, whether this effect contributes to disease control. In this study, we aimed to show that decitabine could induce specific autologous CTLs against some mouse CTAs in leukemia cells in vitro and in vivo.

Methods
Several mouse CTAs were screened by RT-PCR. CTL specific to one of the CTAs named P1A was detected and sorted by P1A specific dimer by flow cytometry. The activity of specific CTLs was measured by real time RT-PCR.

Results
We firstly screened expression of some CTAs in mouse leukemia cells before and after decitabine treatment and found that decitabine treatment did up-regulate expression of many CTAs. Then we measured the CTLs’ activity specific to a mouse CTA P1A in vivo and showed that this activity increased after decitabine treatment. Finally, we sorted these in vivo induced P1A specific CTLs by flow cytometry and demonstrated their cytotoxicity against decitabine treated leukemia cells.

Conclusions
Our study showed the autologous immune response induced by decitabine in vivo. And more importantly, we firstly proved that this response may contribute to disease control. We believe that this immunostimulatory effect is another anti-cancer mechanism of decitabine, and this special effect would inspire new applications of decitabine in the field of leukemia treatment in the future.
Murine calcium-activated chloride channel family member 3 induces asthmatic airway inflammation independently of allergen exposure
Authors: MEI Li , HE Li , WU Si-si , ZHANG Bo , XU Yong-jian , ZHANG Zhen-xiang , ZHAO Jian-ping , ZHANG Hui-lan 
Published: January 2024

BackgroundExpression of murine calcium-activated chloride channel family member 3 (mCLCA3) has been reported to be increased in the airway epithelium of asthmatic mice challenged with ovalbumin (OVA). However, its role in asthmatic airway inflammation under no OVA exposure has not yet been clarified.MethodsmCLCA3 plasmids were transfected into the airways of normal BALB/c mice. mCLCA3 expression and airway inflammation in mouse lung tissue were evaluated. Cell differentials and cytokines in bronchoalveolar lavage fluid (BALF) were analyzed. The expression of mCLCA3 protein and mucus protein mucin-5 subtype AC (MUC5AC) were analyzed by Western blotting. The mRNA levels of mCLCA3, MUC5AC and interleukin-13 (IL-13) were determined quantitatively.ResultsmCLCA3 expression was not detected in the control group while strong immunoreactivity was detected in the OVA and mCLCA3 plasmid groups, and was strictly localized to the airway epithelium. The numbers of inflammatory cells in lung tissue and BALF were increased in both mCLCA3 plasmid and OVA groups. The protein and mRNA levels of mCLCA3 and MUC5AC in the lung tissue were significantly increased in the mCLCA3 plasmid and OVA groups compared to the control group. The level of IL-13, but not IL-4, IL-5, IFN-γ, CCL2, CCL5 or CCL11, was significantly increased compared with control group in BALF in the mCLCA3 plasmid and OVA groups. The level of IL-13 in the BALF in the mCLCA3 plasmid group was much higher than that in the OVA group (P<0.05). The level of mCLCA3 mRNA in lung tissue was positively correlated with the levels of MUC5AC mRNA in lung tissue, IL-13 mRNA in lung tissue, the number of eosinophils in BALF, and the content of IL-13 protein in BALF. The level of IL-13 mRNA in lung tissue was positively correlated with the number of eosinophils in BALF and the level of MUC5AC mRNA in lung tissue.ConclusionThese findings suggest that increased expression of a single-gene, mCLCA3, could simulate an asthma attack, and its mechanism may involve mCLCA3 overexpression up-regulating IL-13 expression.
Computed tomography in predicting smear-negative pulmonary tuberculosis in AIDS patients
Authors: FENG Feng , SHI Yu-xin , XIA Gan-lin , ZHU Ying , LU Hong-zhou , ZHANG Zhi-yong 
Published: January 2024

BackgroundThe correct diagnosis of sputum smear-negative pulmonary tuberculosis in AIDS patients is very important to their therapy. We aimed to assess the value of the computed tomography (CT) and clinical findings in predicting smear-negative pulmonary tuberculosis in AIDS patients.MethodsA total of 121 AIDS patients suspected of smear-negative pulmonary tuberculosis by clinical and radiographic findings were recruited. Pulmonary tuberculosis was diagnosed in 57 (47.1%) patients. The CT and clinical predictors were selected to diagnose AIDS-related pulmonary tuberculosis through univariate and multivariate Logistic analysis.ResultsMultivariate analysis showed that five variables, including weight loss, presence of miliary nodules, necrotic lymph node, lobular consolidation, tree-in-bud sign, were independent predictors of pulmonary tuberculosis in AIDS patients. Predicted scores based on the five variables were used to identify pulmonary tuberculosis. If the predicted score of 3 was taken as the ideal cut-off point in the diagnosis of AIDS-related smear-negative pulmonary tuberculosis, the sensitivity, specificity, positive predictive value, negative predictive value, and accuracy were 84.2%, 81.2%, 80.0%, 85.2%, and 82.6%, respectively.ConclusionThe prediction method based on five key factors of clinical and CT findings are useful in guiding the diagnosis of smear-negative pulmonary tuberculosis in AIDS patients.
Proactive infection control measures to prevent nosocomial transmission of carbapenem-resistant Enterobacteriaceae in a non-endemic area
Authors: CHENG Vincent Chi-Chung , CHAN Jasper Fuk-Woo , WONG Sally Cheuk-Ying , CHEN Jonathan Hon-Kwan , TAI Josepha Wai-Ming , YAN Mei-Kum , KWAN Grace See-Wai , TSE Herman , TO Kelvin Kai-Wang , HO Pak-Leung , YUEN Kwok-Yung 
Published: January 2024

Background
Identification of hospitalized carbapenem-resistant Enterobacteriaceae (CRE)-positive patient is important in preventing nosocomial transmission. The objective of this study was to illustrate the implementation of proactive infection control measures in preventing nosocomial transmission of CRE in a healthcare region of over 3200 beds in Hong Kong between October 1, 2010 and December 31, 2011.

Methods
The program included active surveillance culture in patients with history of medical tourism with hospitalization and surgical operation outside Hong Kong within 12 months before admission, and “added test” as an opportunistic CRE screening in all fecal specimens submitted to the laboratory. Outbreak investigation and contact tracing were conducted for CRE-positive patients. Serial quantitative culture was performed on CRE-positive patients and the duration of fecal carriage of CRE was analyzed.

Results
During the study period, a total of 6533 patients were screened for CRE, of which 76 patients were positive (10 from active surveillance culture, 65 from “added test”, and 1 secondary case from contact tracing of 223 patients with no nosocomial outbreak), resulting in an overall rate of CRE fecal carriage of 1.2%. The median time of fecal carriage of CRE was 43 days (range, 13–119 days). Beta-lactam-beta-lactamase-inhibitors, cephalosporins, and fluoroquinolones were associated significantly with high fecal bacterial load when used 90 days before CRE detection, while use of cephalosporins, carbapenems, and fluoroquinolones after CRE detection are significantly associated with longer duration of carriage. The duration of fecal carriage of CRE also correlates significantly with the initial fecal bacterial load (Pearson correlation: 0.53; P=0.02).

Conclusion
Proactive infection control measures by enhanced surveillance program identify CRE-positive patients and data obtained are useful for the planning of and resource allocation for CRE control.
Pressure therapy upregulates matrix metalloproteinase expression and downregulates collagen expression in hypertrophic scar tissue
Authors: HUANG Dong , SHEN Kuan-hong , WANG Hong-gang 
Published: January 2024

Background
Pressure therapy improves hypertrophic scar healing, but the mechanisms for this process are not well understood. We sought to investigate the differential expression of matrix metalloproteinases (Mmps) and collagen in post-traumatic hypertrophic scar tissue with mechanical pressure and delineate the molecular mechanisms of pressure therapy for hypertrophic scars.

Methods
Fibroblast lines of normal skin and scar tissue were established and a mechanical pressure system was devised to simulate pressure therapy. Reverse transcription-polymerase chain reaction (RT-PCR) and Western blotting assays were used to compare differences in the mRNA and protein expression of Mmps and collagen in scar fibroblasts before and after pressure therapy.

Results
The expression differed between the hypertrophic scar cell line and the normal cell line. RT-PCR assays showed that Collagen I, highly expressed in the hypertrophic scar cell line, decreased significantly after pressure therapy. Mmp2, Mmp9, and Mmp12 expression in the hypertrophic scar tissue increased significantly after pressure therapy (P <0.05). Western blotting assays further revealed that Mmp9 and Mmp12 expression increased significantly in the hypertrophic scar tissue after pressure therapy (P <0.05) but not Mmp2 expression (P >0.05).

Conclusion
Mechanical pressure induces degradation of Collagen I in hypertrophic scar tissue by affecting the expression of Mmp9 and Mmp12.
Effect of refractive correction on ocular optical quality measurement using double-pass system
Authors: WAN Xiu-Hua , CAI Xiao-Gu , QIAO Li-Ya , ZHANG Ye , TAN Jia-Xuan , Vishal Jhanji , WANG Ning-Li 
Published: January 2024

Background
Optical Quality Analysis System II (OQAS, Visiometrics, Terrassa, Spain) that uses double-pass (DP) technique is the only commercially available device that allows objective measurement of ocular retinal image quality. This study aimed to evaluate the impact of spectacle lenses on the ocular optical quality parameters and the validity of the optometer within OQAS.

Methods
Seventy eyes of healthy volunteers were enrolled. Optical quality measurements were performed using OQAS with an artificial pupil diameter of 4.0 mm. Three consecutive measurements were obtained from spectacle correction corresponding to subjective refraction and from the OQAS built-in optometer separately. The modulation transfer function cutoff frequency, the Strehl ratio, the width of the point spread function (PSF) at 10% of its maximal height (PSF10), and the width of the PSF at 50% of its maximal height (PSF50) were analyzed.

Results
There was no significant difference in any of the parameters between the spectacle correction and the optometer correction (all P >0.05, paired t-test). A good agreement was found between both the methods and a good intraobserver repeatability in both the correction methods. Difference in best focus between two methods was the only parameter associated significantly with optical quality parameter differences. Best focus difference, built-in optometer correction with or without external cylindrical lens, and age were associated significantly with PSF10 difference. No linear correlation between refractive status and optical quality measurement difference was observed. A hyperopic bias (best focus difference of (0.50±0.44) D) and a relatively better optical quality using spectacle correction in high myopia group were found.

Conclusions
OQAS based on DP system is a clinically reliable instrument. In patients with high myopia, measurements using built-in optometer correction should be considered and interpreted with caution.
Endoscopic full-thickness resection of gastric stromal tumor arising from the muscularis propria
Authors: ZHANG Bo , HUANG Liu-ye , WU Cheng-rong , CUI Jun , JIANG Li-xin , ZHENG Hai-tao 
Published: January 2024

Background
Gastric stromal tumors are the most common type of tumor originating from mesenchymal tissue. The traditional method for the treatment of gastric stromal tumor is surgical operation or therapeutic laparoscopy. More recently, endoscopic micro-traumatic surgery has become possible for gastric stromal tumors, with any perforation caused by endoscopic therapy mended endoscopically. We assessed the effectiveness of endoscopic full-thickness resection (EFR) in the treatment of gastric stromal tumors arising from the muscularis propria.

Methods
Of the 42 gastric stromal tumors, each >2.0 cm in diameter, arising from the muscularis propria, 22 were removed by EFR and 20 by laparoscopic surgery. Tumor expression of CD34, CD117, Dog-1, S-100, and smooth muscle actin (SMA) was assessed immunohistochemically. Operating time, complete resection rate, length of hospital stay, incidence of complications, and recurrence rates were compared between the two groups. Continuous data were compared by using independent samples t-tests and categorical data by using χ2 tests.

Results
Comparisons of the 22 gastric stromal tumors treated with EFR and the 20 treated with laparoscopic surgery showed similar operation times (60-155 minutes (mean, (90±17) minutes) vs. 50-210 minutes (mean, (95±21) minutes), P >0.05), complete resection rates (100% vs. 95%, P >0.05), and length of hospital stay (4-10 days (mean, (6.0±1.8) days) vs. 4-12 days (mean, (7.3±1.7) days), P >0.05). None of the patients treated with EFR experienced complications, whereas one patient treated with laparoscopy required a conversion to laparotomy and one experienced postoperative gastroparesis. No recurrences were observed in either group. Immunohistochemical staining showed that of the 42 gastric stromal tumors diagnosed by gastroscopy and endoscopic ultrasound, six were leiomyomas (SMA-positive) and the remaining 36 were stromal tumors.

Conclusions
Gastric stromal tumors arising from the muscularis propria can be completely removed by EFR. EFR may replace surgical or laparoscopic procedures for the removal of gastric stromal tumors.