[Evaluation of differences in quality of life in patients with chronic graft-versus-host disease].

Objective: To evaluate the status of, differences in, and factors influencing quality of life (QoL) in patients with chronic graft-versus-host disease (GVHD). Methods: From September 2021 to February 2023, a cross-sectional study of 140 patients with chronic GVHD was conducted at our center. Symptom burden was assessed by the Lee Symptomatology Scale (LSS), and QoL was assessed by the Medical Outcome Study 36-Item Short-Form Health Survey (SF-36) (version 1) and five-level EuroQoL five-dimensional questionnaire (EQ-5D-5L). Results: Data from 140 respondents, including 32 (22.9%) with mild chronic GVHD, 87 (62.1%) with moderate chronic GVHD, and 21 (15.0%) with severe chronic GVHD, were analyzed. Of the respondents, 61.4% were male, and the median transplantation age was 34 (15-68) years. The primary diagnoses were acute myeloid leukemia (50.0%), acute lymphoblastic leukemia (20.0%), and myelodysplastic syndrome (15.0%). The common chronic GVHD-affected organs included the skin in 74 patients (52.9%), the eyes in 57 patients (40.7%), and the liver in 50 patients (35.7%). Among the whole cohort, the eye (20.48±23.75), psychological (16.13±17.00), and oral (13.66±20.55) scores were highest in the LSS group. The physiological function (36.07±11.13), social function (36.10±10.68), and role-emotional functioning (38.36±11.88) scores were lowest in the SF-36 group. The EQ-5D index was 0.764. The total LSS scores for mild, moderate, and severe chronic GVHD were 6.51±6.15, 10.07±5.61, and 20.90±10.09, respectively. The SF-36 physical component scores (PCSs) were 43.12±6.38, 40.73±7.14, and 36.97±6.97, respectively, and the mental component scores (MCSs) were 43.00±8.47, 38.90±9.52, and 28.96±9.63, respectively. The EQ-5D values were 0.810±0.124, 0.762±0.179, and 0.702±0.198, respectively. The multivariate analysis showed that the overall symptom burden (ß=-0.517), oral symptom burden (ß=-0.456), National Institute of Health (NIH) criteria for the eyes (ß=-0.376), and nutrition-related symptom burden (ß=-0.211) were significantly negatively correlated with the PCS. The NIH score (ß=-0.260) was negatively correlated with the MCS score. Oral symptom burden (ß=-0.400), joint/fascia NIH criteria (ß=-0.332), number of involved systems (ß=-0.253), overall NIH criteria (ß=-0.205), and number of immunosuppressants taken (ß=-0.171) were significantly negatively correlated with the EQ-5D score (all P<0.05). Medium to strong correlations were found between the EQ-5D score and the SF-36 score (|r|=0.384-0.571, P<0.001). Conclusions: The QoL of patients with chronic GVHD is impaired, and the more severe the disease, the poorer the QoL. Overall symptom burden, severity of eyes, and oral symptom burden were the most important factors affecting QoL.

[Effect of REG3A on proliferation and invasion of glioma cells by regulating PI3K/Akt signaling pathway].

Objective: To investigate the effects of regenerating islet-derived protein 3A (REG3A) on the proliferation and invasion of glioma cells and its molecular mechanism. Methods: Five low-grade, five high-grade glioma tissues and ten adjacent tissues from glioma patients who underwent surgery at Linyi People's Hospital from October 17, 2017 to October 18, 2018 were collected. Human glioma cell lines (SF295, U251, TG905, A172, CRT) and a primary glioma cell line PT-1 were cultured in vitro. The protein and mRNA expressions of REG3A in these tissues and glioma cell lines were detected by Western blot and reverse transcription-quantitative real-time polymerase chain reaction (RT-qPCR). SF295 cells were infected with lentivirus and labeled as REG3A plasmid transfection group, and the TG905 cells were transfected with si-REG3A by liposome transfection reagent and labeled as si-REG3A transfection group. At the same time, the empty transfection control and blank control groups were set up. Glioma cells were treated with REG3A recombinant protein alone or in combination with Akt1/2 inhibitors. Cell counting kit-8 (CCK-8) and cell scratch assay were used to detect cell proliferation and invasion, respectively. Western blot was used to detect the protein expression of N-cadherin, vimentin and phosphorylation of Akt (p-Akt) in REG3A overexpressed and knockdown glioma cells. Results: RT-qPCR results showed that the mRNA expression levels of REG3A in glioma cells in each group were U251 (2.129±0.13), TG905 (2.22±0.59), CRT (5.02±0.31), A172 (6.62±1.34) and PT-1 (9.18±0.61), respectively, higher than its expression in SF295 cells (1.00±0.18, P<0.001). The mRNA expression level of REG3A in high-grade glioma tissue samples (3.18±2.92) was higher than that in the control group (1.00±1.14, P=0.031) and low-grade glioma group (0.90±0.67, P=0.014). The results of western blot and immunohistochemical staining were consistent with that of RT-qPCR. The migration rate of cells in si-REG3A transfection group [(60.57±5.30)%] was lower than that of the empty transfection group [(84.18±13.63)% (P=0.038)] and blank control group [(79.65±12.09)% (P=0.076)]. The results of the scratch experiment showed that the migration rate of cells in REG3A plasmid transfected cells in the SF295 group was (96.05±6.41)%, which was significantly higher than that of empty transfected cells [(74.47±8.23)%, P=0.021)]. REG3A recombinant protein could up-regulate the expression of N-cadherin, vimentin and p-Akt in SF295 cells. Compared with the control group [(100.00±2.53)%], the proliferation rate in the REG3A recombinant protein group [(117.70±10.24)%] was significantly up-regulated, and the proliferation rate in the REG3A recombinant protein+ Akt inhibitor group [(98.31±3.64)%] was significantly lower than that of the REG3A recombinant protein group (P=0.017). The migration rate of the REG3A recombinant protein+ Akt inhibitor group was (63.35±4.06)%, which was significantly lower than (89.26±11.07)% of the REG3A recombinant protein group (P=0.019). Conclusion: REG3A can promote the proliferation and invasion of human glioma cells by activating the PI3K/Akt signaling pathway.

Creating superconductivity in WB2 through pressure-induced metastable planar defects.

High-pressure electrical resistivity measurements reveal that the mechanical deformation of ultra-hard WB2 during compression induces superconductivity above 50 GPa with a maximum superconducting critical temperature, Tcof 17 K at 91 GPa. Upon further compression up to 187 GPa, the Tcgradually decreases. Theoretical calculations show that electron-phonon mediated superconductivity originates from the formation of metastable stacking faults and twin boundaries that exhibit a local structure resembling MgB2 (hP3, space group 191, prototype AlB2). Synchrotron x-ray diffraction measurements up to 145 GPa show that the ambient pressure hP12 structure (space group 194, prototype WB2) continues to persist to this pressure, consistent with the formation of the planar defects above 50 GPa. The abrupt appearance of superconductivity under pressure does not coincide with a structural transition but instead with the formation and percolation of mechanically-induced stacking faults and twin boundaries. The results identify an alternate route for designing superconducting materials.

[Treatment response to Conbercept of different types of diabetic macular edema classified based on optical coherence tomography].

OBJECTIVE: To compare different types of diabetic macular edema (DME) classified based on optical coherence tomography (OCT) for their responses to Conbercept injection and analyze the factors that affect the treatment responses. METHODS: We retrospectively analyzed the clinical data of 65 patients (76 eyes) with DME diagnosed and treated with intravitreal injection of Conbercept (1+PRN) in our hospital from February, 2019 to February, 2021. According to OCT findings, DME in these patients was classified into cystic macular edema (CME; 28 eyes), serous retinal detachment (SRD; 33 eyes), and diffuse retinal thickening (DRT; 15 eyes). The best corrected visual acuity (BCVA) and central retinal thickness (CRT) were measured before and at 3 months after the first treatment. The baseline OCT characteristics of different types of DME were compared, and the correlation of these OCT characteristics with the treatment response to Conbercept was analyzed. RESULTS: All the patients showed significant improvement of the BCVA 3 months after the treatment (P < 0.05). For all the 3 types of DME, the CRT at 3 months after the first treatment was significantly reduced as compared to the baseline (P < 0.05). The number of hyperreflective foci (HF) in the outer retina and the proportion of ellipsoid zone (EZ) interruption were the greatest in SRD group (P < 0.05). The baseline outer retinal HF was significantly correlated with the baseline CRT, CRT changes and CRT after treatment (all P < 0.05). The patients with baseline outer limiting membrane (ELM)/ EZ disruption had poorer baseline BCVA, greater baseline CRT, greater variation of CRT and poorer BCVA at 3 months after treatment (all P < 0.05). CONCLUSION: For all the 3 types of DME, treatment with intravitreal injection of Conbercept can significantly improve the BCVA and CRT of the patients. DME of the SRD type has the best morphological response to Conbercept, while the DRT type has a relatively poor response. A greater number of HF at baseline may indicate a better morphological response to Conbercept treatment, and baseline ELM/EZ disruption may suggest a poor visual prognosis at 3 months after treatment.

Aviremic organ transplant dengue virus transmission - A case report.

Dengue virus (DENV), a mosquito-borne pathogen, causes systemic infections. There are no clear guidelines regarding the screening of donor blood is used in endemic countries to prevent blood transfusion or transplant-associated dengue. DENV has been shown to be detected in urine samples even when DENV viremia is undetectable. We describe an incident of transplant-associated dengue where the donor tested negative for DENV viremia but positive for DENV viuria resulting in the transmission of DENV to our two kidney recipients. Both recipients resolved DENV infection uneventfully, with no adverse impact on the renal graft. Our findings raise the consideration for revised screening recommendations in endemic countries to include DENV RT-PCR in the urine.

Primary intrasellar schwannoma with intratumoral hemorrhage mimicking pituitary apoplexy: A case report.

Tumours growing in the sella turcica are mostly pituitary adenomas. We describe a rare case of primary intrasellar schwannoma with intratumoral bleeding. A 38-year-old man presented with headache in association with bilateral supratemporal quadrantopsia. MRI showed an intrasellar mixed signal mass lesion with suprasellar extension. The majority of the pituitary hormones were normal. He was diagnosed as non-functional pituitary adenoma with pituitary apoplexy. Subtotal resection was achieved eventually via an endoscopic transnasal trans-sphenoidal approach. The histopathologic diagnosis was schwannoma. It is the first intrasellar schwannoma with intratumoral hemorrhage in literature to date. It implied that the primary intrasellar schwannoma has potential risk of intratumoral bleeding, which should be considered in the differential diagnoses of sellar lesions.

[The clinical observation of sirolimus combined with calcineurin inhibitors for steroid-resistant/steroid-dependent extensive cGVHD].

Objective: To observe the efficacy and safety of sirolimus combined with calcineurin inhibitor (CNI) in the treatment of glucocorticoid resistant/dependent extensive chronic graft-versus-host disease (cGVHD) . Methods: A total of 27 patients with steroid-resistant/steroid-dependent extensive cGVHD from November 2015 to January 2019 were enrolled and given sirolimus capsules combined with cyclosporine or tacrolimus to observe the clinical efficacy and adverse events. Results: The median duration of medication was 14.2 months and the mean duration was 16.7 months. The median follow-up time was 20.1 months (12.9-46.1 months) . Following the 6-month follow-up, 3 cases achieved complete response (CR) and 12 cases partial response (PR) . The overall response rate (ORR) was 55.6% ; for progression-free survival (PFS) , PFS-6 reached 88.9% (24/27) , and for overall survival (OS) , OS-6 was 100% . At the 1-year follow-up, there were 5 cases of CR and 11 cases of PR, ORR was 59.3% , PFS-12 reached 62.9% (17/27) , and OS-12 was 100% . The subgroup analysis found that the program was more effective for cGVHD in male donors and the target organ analysis had an advantage in the treatment of oral cavity, skin, and liver rejection. Adverse events were observed: hyperlipidemia 11.1% , oral ulcer 7.4% , fungal infection 11.1% , liver injury 3.7% , renal insufficiency 0, and no new CMV and EB viremia. Conclusion: Sirolimus combined with calcineurin inhibitors is effective in treating steroid-resistant/steroid-dependent extensive cGVHD, especially because adverse reactions (renal toxicity, CMV, EBV infection) are low in number, which is suitable for long-term treatment of cGVHD.

The Evolving Practice Patterns of Academic Endocrine Surgeons: A Cross-sectional Analysis of the Faculty Practice Solutions Center Database 2014 to 2017.

OBJECTIVE: To examine the evolution of an academic endocrine surgeon's practice over time. SUMMARY BACKGROUND: Amid growing recognition that surgical volume and specialization are linked to better outcomes, endocrine surgery is one of the youngest fields to develop its own formal fellowship training program. However, 3 decades after the emergence of endocrine surgery as a distinct specialty, the medical community and public still have a limited understanding of endocrine surgeons and what they do. METHODS: We performed a cross-sectional analysis of endocrine surgeons identified in the Faculty Practice Solutions Center Database from 2014 to 2017. Trends in annual number of endocrine surgeries performed, number of all surgeries performed, total work relative value units generated, and patient payer mix stratified by years of practice were evaluated. RESULTS: One hundred thirty-nine endocrine surgeons practicing in 103 institutions over 4 years were analyzed. The proportion of endocrine-specific operations increases over time. A typical academic endocrine surgeon meets the high-volume threshold for thyroidectomies early in their career, but does not reach the thresholds for parathyroidectomies or adrenalectomies until after 4 years. Increased productivity as reflected by adjusted work relative value units does increase over the first 15 years of practice, but also decreases as the proportion of endocrine-specific practice increases. The greatest proportion of endocrine surgeons' patients are insured by commercial plans (46%-50%), and payer mix is stable across all levels of practice. CONCLUSIONS: Although endocrine surgeons perform a high-volume of endocrine-specific operations, practice patterns are heterogeneous and suggest that most surgeons have to grow their endocrine-specific practice over time.

Phosphorylation of nucleopolyhedrovirus 39K is essential for the regulation of viral gene transcription in silkworm cells.

39K protein was proven to be the most notable hyperphosphorylated protein of Bombyx mori nucleopolyhedrovirus (BmNPV), since its amino acid 136 has the highest phosphorylation ratio (16.683) among all of BmNPV phosphorylated proteins (Shobahah et al., 2017). Therefore, we inserted positive (mimicking phosphorylation) and negative (mimicking dephosphorylation) mutants of the highest phosphorylated site of 39K and the wild type 39k into the 39k-ko-Bacmid using the Bac-to-Bac system. These three kinds of recombinant Bacmids along with wild type and knocked-out Bacmid were then transfected into the Bombyx mori cells (BmN) and further investigated by qPCR analysis. The results of the qPCR showed that 39K phosphorylation had no significant effect on viral genome replication, unlike the positive mutation that reduced the viral gene transcription drastically compared to the wild type. Thus, phosphorylation of BmNPV 39K protein does not appear to be the essential mechanism for viral genome replication, even though it has an important role in the viral gene transcription. Keywords: BmNPV; 39K; phosphorylation; virus replication; virus transcription.

Correction to 'Resveratrol-loaded PLGA nanoparticles: enhanced stability, solubility and bioactivity of resveratrol for non-alcoholic fatty liver disease therapy'.

[This corrects the article DOI: 10.1098/rsos.181457.].

Variability of vestibular aqueduct measurements among axial, single-oblique and double-oblique computed tomography images.

OBJECTIVE: To investigate the morphology and dimensions of the vestibular aqueduct on axial, single-oblique and double-oblique computed tomography images. METHODS: The computed tomography temporal bone scans of 112 patients were retrospectively evaluated. Midpoint and opercular measurements were performed using axial, single-oblique and double-oblique images. Morphometric analyses were also conducted. The vestibular aqueduct sizes on axial, single-oblique and double-oblique images were compared. RESULTS: At the midpoint, the mean (± standard deviation) vestibular aqueduct measured 0.61 ± 0.23 mm, 0.74 ± 0.27 mm and 0.82 ± 0.38 mm on axial, single-oblique and double-oblique images, respectively; at the operculum, the vestibular aqueduct measured 0.91 ± 0.30 mm, 1.11 ± 0.45 mm and 1.66 ± 1.07 mm on the respective images. The co-efficients of variation of the vestibular aqueduct measured at the midpoint were 37.4 per cent, 36.5 per cent and 47.5 per cent on axial, single-oblique and double-oblique images, respectively; at the operculum, the measurements were 33.0 per cent, 40.5 per cent and 64.5 per cent. Regarding morphology, the vestibular aqueduct was fissured (33.5 per cent), tubular (64.3 per cent) or invisible (2.2 per cent). CONCLUSION: The morphology and dimensions of the vestibular aqueduct were highly variable among axial, single-oblique and double-oblique images.

Long-term Rescue of Photoreceptors in a Rodent Model of Retinitis Pigmentosa Associated with MERTK Mutation.

MERTK mutation reduces the ability of retinal pigment epithelial (RPE) cells to phagocytize the photoreceptor outer segments, which leads to accumulation of debris separating photoreceptors from RPE cells, resulting in their degeneration and loss of vision. In a rat model of Retinitis Pigmentosa due to MERTK mutation, we demonstrate that surgical removal of debris performed when about half of photoreceptors are lost (P38), allows the remaining photoreceptor cells to renew their outer segments and survive for at least 6 months - 3 times longer than in untreated eyes. In another set of experiments, patterned laser photocoagulation was performed before the debris formation (P19-25) to destroy a fraction of photoreceptors and thereby reduce the phagocytic load of shed outer segment fragments. This treatment also delayed the degeneration of the remaining photoreceptors. Both approaches were assessed functionally and morphologically, using electroretinography, optical coherence tomography, and histology. The long-term preservation of photoreceptors we observed indicates that MERTK-related form of inherited retinal degeneration, which has currently no cure, could be amenable to laser therapy or subretinal surgery, to extend the visual function, potentially for life.

Realization of continuous electron doping in bulk iron selenides and identification of a new superconducting zone.

It is known that iron selenide superconductors exhibit unique characteristics distinct from iron pnictides, especially in the electron-doped region. However, a comprehensive study of continuous carrier doping and the corresponding crystal structures of FeSe is still lacking, mainly due to the difficulties in controlling the carrier density in bulk materials. Here we report the successful synthesis of a new family of bulk Lix(C3N2H10)0.37FeSe, which features a continuous superconducting dome harboring Lifshitz transition within the wide range of 0.06 ⩽ x ⩽ 0.68 . We demonstrate that with electron doping, the anion height of FeSe layers deviates linearly away from the optimized values of pnictides and pressurized FeSe. This feature leads to a new superconducting zone with unique doping dependence of the electronic structures and strong orbital-selective electronic correlation. Optimal superconductivity is achieved when the F e 3 d t 2 g orbitals have almost the same intermediate electronic correlation strength, with moderate mass enhancement between 3 ~ 4 in the two separate superconducting zones. Our results shed new light on achieving unified mechanism of superconductivity in iron-based superconductors.

The pathogenic detection for 126 children with diarrhea and drug sensitivity tests.

OBJECTIVE: To investigate the cause of infective diarrhea in children, special distribution of the infection and the drug sensitivity. PATIENTS AND METHODS: We carried out pathogenic detection and drug sensitivity tests for one hundred and twenty-six children with diarrhea, including 67 children in infant group (0-<1 year) and 59 children in child group (1-5 years). RESULTS: Fat particles and starch particles were seen in most stool samples under microscope; 42 kinds of pathogenic bacteria were obtained from 126 stool samples, including 10 Diarrheagenic E. coli (8 Enteropathogenic E. coli and Enteroinvasive E. coli); there were found 53 positive samples in the detection of anti-rotavirus antibody in 126 stool samples; in the drug sensitivity tests for major pathogenic bacteria, Staphylococcus aureus, Shigella, Salmonella and Diarrheagenic E. coli were highly sensitive. CONCLUSIONS: The abuse of antimicrobial agents may result in intestinal disorders, leading to aggravation in diarrhea and antimicrobial agents based on drug sensitivity tests may be served as fundamental treatment of diarrhea for children.

Single Nodal Loop of Accidental Degeneracies in Minimal Symmetry: Triclinic CaAs_{3}.

The existence of closed loops of degeneracies in crystals has been intimately connected with associated crystal symmetries, raising the following question: What is the minimum symmetry required for topological character, and can one find an example? Triclinic CaAs_{3}, in the space group P1[over ¯] with only a center of inversion, has been found to display, without need for tuning, a nodal loop of accidental degeneracies with topological character, centered on one face of the Brillouin zone that is otherwise fully gapped. The small loop is very flat in energy, yet is cut four times by the Fermi energy, a condition that results in an intricate repeated touching of inversion related pairs of Fermi surfaces at Weyl points. Spin-orbit coupling lifts the fourfold degeneracy along the loop, leaving trivial Kramers pairs. With its single nodal loop that emerges without protection from any point group symmetry, CaAs_{3} represents the primal "hydrogen atom" of nodal loop systems.

Functional characterization of Bombyx mori nucleopolyhedrovirus mutant lacking late expression factor 9.

Baculoviridae is a family of invertebrate viruses with large double-stranded DNA genomes. Proteins encoded by some late expression factor (lef ) genes are involved in the regulation of viral gene expression. Lef-9 is one of four transcription-specific Lefs, which are components of the virus-encoded RNA polymerase, and can initiate and transcribe late and very late genes. As a multifunctional protein encoded by the Bombyx mori nucleopolyhedrovirus (BmNPV), Lef-9 may be involved in the regulation of viral propagation. However, the underlying mechanism remains unclear. To determine the role of lef-9 in baculovirus infection, lef-9-knockout virus (lef-9-KO-Bacmid virus) was constructed using the Red recombination system, and the Bac-to-Bac system was used to prepare lef-9-repaired virus (lef-9-Re-Bacmid virus). The lef-9-KO virus did not produce infectious viruses or show infection activity, while the lef-9-repaired virus recovered both. Quantitative real-time polymerase chain reaction (qRT-PCR) analysis of the transcription levels in wild-type-Bacmid, lef-9-KO-Bacmid, and lef-9-Re-Bacmid viruses showed that the lef-9-KO bacmid had little effect on viral genome replication. However, the transcription levels of the early and late viral genes, lef-3, ie-1, vp39, and p10, were significantly lower in BmN cells transfected with lef-9-KO-Bacmids than in the controls. Electron microscopy showed no visible enveloped virions in cells transfected with lef-9-KO-Bacmids, while many mature virions in cells transfected with lef-9-Re-Bacmid and wt-Bacmid were present. Thus, lef-9 was not essential for viral genome replication, but significantly affected viral gene transcription and expression in all periods of cell life cycle.

Coexistence of intracranial aneurysm and hemangioblastoma: A case report and literature review.

The association of intracranial aneurysm and hemangioblastoma is extremely rare. This report regards a patient affected by Von Hippel-Lindau syndrome with multiple hemangioblastoma and two intracranial aneurysms, of which one was on a hemangioblastoma feeder vessel and the other on an unrelated vessel. Review of the literature revealed 13 other previously reported cases. Possible mechanisms to explain the association are discussed.

MicroRNA-202 induces cell cycle arrest and apoptosis in lung cancer cells through targeting cyclin D1.

OBJECTIVE: MicroRNAs are critical regulators in tumorigenesis. This study is aimed at investigating the function of miR-202 in the proliferation of human lung cancer cells. PATIENTS AND METHODS: Lung cancer tissues and paired adjacent normal tissues were collected from 20 patients; the expression of miR-202 was tested by Realtime PCR; cell proliferation and cell cycle distribution were determined by CCK-8 assay and flow cytometry, respectively; apoptosis was determined by TUNEL assay and Western blot analysis of cleaved-PARP; the relationship between miR-202 and cyclin D1 mRNA 3'UTR was determined by luciferase activity assay. RESULTS: MiR-202 was significantly reduced in lung cancer tissues compared with the adjacent normal tissues. Overexpression of miR-202 inhibited cell proliferation and induced a G0/G1 cell cycle arrest and apoptosis. Luciferase activity assay and Western blot analysis together showed that miR-202 can bind to the 3'UTR of cyclin D1 mRNA directly and inhibits cyclin D1 expression at the protein level. In addition, restoration of cyclin D1 expression partially abolished cell cycle arrest and apoptosis induced by miR-202. CONCLUSIONS: MiR-202 is constantly downregulated in lung cancer and functions as a tumor suppressive gene via targeting cyclin D1. Modulating the level of miR-202 may be a novel therapeutic method for lung cancer.

Association between genetic variants of EGF-containing fibulin-like extracellular matrix protein1 gene and sporadic breast cancer in a Chinese Han population.

PURPOSE OF INVESTIGATION: Genetic susceptibility of breast cancer has been shown to be modulated by inheritance of polymorphic genes. EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene played an important role in many tumors, including lung cancer, hepatic carcinoma, and prostate cancer. In addition, it was importantly downexpressed in breast cancer. The present research aimed to assess the association between genetic variations of EFEMP1 and breast cancer risk. MATERIALS AND METHODS: The authors genotyped 11 common tagging SNPs with an array platform including 960 cases and 972 cancer-free controls of Chinese women, according to the HapMap database based on the pairwise linkage disequilibrium (LD) r² threshold of 0.8, minor allele frequency of 0.05. RESULTS: Three SNPs were significant associated with breast cancer (rs3791679, p = 0.016, OR = 1.21, 95% CI = 1.04-1.41; rs1346786, p = 0.005, OR = 1.31, 95% CI = 1.08 -1.59; rs727878, p = 0.002, OR = 1.29, 95%CI = 1.10-1.51). Multivariate logistic regression analysis revealed that, compared with wild-type carriers in a dominant model, a significantly increased breast cancer risk was associated with the three identified risk SNPs. Among the selected tagging SNPs, three haplotype blocks were identified, and the results of haplotype analysis were consistent with the single-locus analysis. The haplotype 'GG' in block 1 and haplotype 'AG' in block 2 were significantly associated with breast cancer, and had a 54% and 28% increased breast cancer risk respectively, compared with their corresponding noncarriers. CONCLUSIONS: The present results suggested that the polymorphisms of EFEMP1 gene were associated with breast cancer and might contribute to the susceptibility of the progression of breast cancer in Chinese Han women. Individuals with the risk alleles might increase the risk of breast cancer.

HLA-DRB1 gene polymorphisms and its associations with rheumatoid arthritis in Chinese Han women of Shaanxi province, northwest of China.

Rheumatoid arthritis (RA) is a common chronic autoimmune disease characterized by symmetric polyarthritis. This study was designed to investigate the associations between HLA-DRB1 gene polymorphisms and RA in the Chinese Han population of Shaanxi province, northwest of China. In total, we identified 31 high-resolution HLA-DRB1 alleles in 109 patients with RA. Compared with the controls, the AF of HLA-DRB1*04:05 (P = 0.000, Pc = 0.007, OR = 3.462, 95%CI: 1.749-6.852) was significantly higher in patients with RA. In addition, the patients with RA had higher allele frequency (AF) of the HLA-DRB1*04:03 (P = 0.030, Pc = NS, OR = 4.737, 95%CI: 1.012-22.180); DRB1*04:06 (P = 0.018, Pc = NS, OR = 5.288, 95%CI: 1.145-24.422) and the shared epitope (SE) alleles (P = 0.004, Pc = NS, OR = 2.166, 95%CI: 1.279-3.667), respectively. Moreover, positive possibilities of RF and anti-CCP were significant higher in SE-positive patients compared to SR-negative patients (OR = 4.787, 95%CI: 1.101-20.824; OR = 3.775, 95%CI: 1.106-12.876, respectively). Our results indicated that HLA-DRB1*04:05, *04:03, *04:06 and SE alleles might be susceptibility allele for RA in Chinese Han population of Shaanxi province, northwest of China.